| 1. Holzgreve W, Grobe H, von Figura K, Kresse H, Beck
H, Mattei JF Morquio syndrome: clinical findings in 11
patients with MPS IVA and 2 patients with MPS IVB. Hum
Genet 1981; 57: 360-365 |
| 2. Beck M, Bender SW, Reiter HL, Otto W, Bassler R,
Dancygier H, Gehler J Neuraminidase deficiency presenting
as non-immune hydrops fetalis. Eur J Pediatr 1984; 143:
135-139 |
| 3. Beck M, Glössl J, Grubisic A, Spranger J Heterogeneity
of Morquio disease. Clin Genet 1986; 29: 325-331. |
| 4. Beck M, Petersen EM, Spranger J, Beighton P Morquio's
disease type B (beta-galactosidase deficiency) in three
siblings. S Afr Med J 1987; 72: 704-707. |
| 5. Beck M, Braun S, Coerdt W, Merz E, Young E, Sewell
AC Fetal presentation of Morquio disease type A. Prenat
Diagn 1992; 12: 1019-1029. |
| 6. Beck M, Steglich C, Zabel B, Dahl N, Schwinger E,
Hopwood JJ, Gal A Deletion of the Hunter gene and both
DXS466 and DXS304 in a patient with mucopolysaccharidosis
type II. Am J Med Genet 1992; 44: 100-103 |
| 7. Gal A, Beck M, Sewell AC, Morris CP, Schwinger E,
Hopwood JJ Gene diagnosis and carrier detection in Hunter
syndrome by the iduronate-2-sulphatase cDNA probe. J Inherit
Metab Dis 1992; 15: 342-346 |
| 8. Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C,
Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A Mucopolysaccharidosis
type I: identification of 8 novel mutations and determination
of the frequency of the two common alpha-L-iduronidase
mutations (W402X and Q70X) among European patients. Hum
Mol Genet 1994; 3: 861-866 |
| 9. Beck M, Barone R, Hoffmann R, Kratzer W, Rakowsky
T, Nigro F, Fiumara A Inter- and intrafamilial variability
in mucolipidosis II (I-cell disease). Clin Genet 1995;
47: 191-199 |
| 10. Bunge S, Kleijer WJ, Steglich C, Beck M, Schwinger
E, Gal A Mucopolysaccharidosis type I: identification
of 13 novel mutations of the alpha-L-iduronidase gene.
Hum Mutat 1995; 6: 91-94 |
| 11. Wippermann CF, Beck M, Schranz D, Huth R, Michel-Behnke
I, Jungst BK Mitral and aortic regurgitation in 84 patients
with mucopolysaccharidoses. Eur J Pediatr 1995; 154: 98-101 |
| 12. Barone R, Bruhl K, Stoeter P, Fiumara A, Pavone
L, Beck M Clinical and neuroradiological findings in classic
infantile and late- onset globoid-cell leukodystrophy
(Krabbe disease). Am J Med Genet 1996; 63: 209-217. |
| 13. Beck M, Scheuring E, Voelter HU, Brandt J, Harzer
K Neuraminidase assay in cultured human fibroblasts: in
situ versus in vitro procedures. Clin Chim Acta 1996;
251: 163-171 |
| 14. Niemann S, Beck M, Seidel G, Spranger J, Vieregge
P Neurology of adult alpha-mannosidosis. J Neurol Neurosurg
Psychiatry 1996; 61: 116-117. |
| 15. Niemann S, Beck M, Seidel G, Spranger J, Vieregge
P Neurology of adult alpha-mannosidosis. J Neurol Neurosurg
Psychiatry 1996; 61: 116-117 |
| 16. Rathmann M, Bunge S, Beck M, Kresse H, Tylki-Szymanska
A, Gal A Mucopolysaccharidosis type II (Hunter syndrome):
mutation "hot spots" in the iduronate-2-sulfatase
gene. Am J Hum Genet 1996; 59: 1202-1209 |
| 17. Beck M, Mengel E, Barone R Enzym-Ersatz-Therapie:
Ein neues Behandlungsprinzip bei M. Gaucher. Wiener klinische
Wochenschrift 1997; 109: 81-85. |
| 18. Bunge S, Kleijer WJ, Tylki-Szymanska A, Steglich
C, Beck M, Tomatsu S, Fukuda S, Poorthuis BJ, Czartoryska
B, Orii T, Gal A Identification of 31 novel mutations
in the N-acetylgalactosamine-6- sulfatase gene reveals
excessive allelic heterogeneity among patients with Morquio
A syndrome. Hum Mutat 1997; 10: 223-232 |
| 19. Beck M, Sieber N, Goebel HH Progressive cerebellar
ataxia in juvenile GM2-gangliosidosis type Sandhoff. Eur
J Pediatr 1998; 157: 866-867 |
| 20. Bunge S, Knigge A, Steglich C, Kleijer WJ, van Diggelen
OP, Beck M, Gal A Mucopolysaccharidosis type IIIB (Sanfilippo
B): identification of 18 novel alpha-N-acetylglucosaminidase
gene mutations. J Med Genet 1999; 36: 28-31 |
| 21. Tekinalp G, Aliefendioglu D, Yuce A, Caglar M, Beck
M A case with early infantile form of galactosialidosis
with unusual haematological findings. J Inherit Metab
Dis 1999; 22: 668-669 |
| 22. Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA,
Parini R, Zammarchi E, d'Azzo A Novel mutations in lysosomal
neuraminidase identify functional domains and determine
clinical severity in sialidosis. Hum Mol Genet 2000; 9:
2715-2725 |
| 23. Boor R, Miebach E, Bruhl K, Beck M Abnormal somatosensory
evoked potentials indicate compressive cervical myelopathy
in mucopolysaccharidoses. Neuropediatrics 2000; 31: 122-127 |
| 24. Schmiedeskamp C, Beck M: The incidence of mucopolysaccharidoses
in Germany. 6th International Symposium on Mucopolysaccharidosis
and Related Diseases, Minneapolis, Minnesota USA, 2000
|
| 25. Beck M Therapie lysosomaler Speicherkrankheiten.
DÄ 2001; 98: A2188 - A2192 |
| 26. Beck M Variable clinical presentation in lysosomal
storage disorders. J Inher Metab Dis 2001; 24 (Suppl.
2): 47-51 |
| 27. Beck M, Whybra C, Kriegsmann J Morbus Fabry - Aktuelle
therapeutische Perspektiven. Dt. Ärztebl 2001; 98;A:
466-468 |
| 28. Beck M, Whybra C, Kriegsmann J Morbus Fabry - Aktuelle
therapeutische Perspektiven. Dtsch Ärztebl 2001;
98;A: 466-468 |
| 29. Beck M, Whybra C, Wendrich K, Gal A, Ries M Anderson-Fabry
disease in children and adolescents. Contrib Nephrol 2001;
251-255 |
| 30. Niederau C, Rolfs A, vom Dahl S, Haussinger D, Poll
LW, Mengel E, Beck M Diagnose und Therapie des Morbus
Gaucher. Aktuelle Empfehlungen der deutschen Therapiezentren
im Jahr 2000. Med Klin 2001; 96: 32-39 |
| 31. Paschke E, Milos I, Kreimer-Erlacher H, Hoefler
G, Beck M, Hoeltzenbein M, Kleijer W, Levade T, Michelakakis
H, Radeva B Mutation analyses in 17 patients with deficiency
in acid beta-galactosidase: three novel point mutations
and high correlation of mutation W273L with Morquio disease
type B. Hum Genet 2001; 109: 159-166 |
| 32. Ries M, Wendrich K, Whybra C, Kampmann C, Gal A,
Beck M Angiokeratoma and pain, but not Fabry's disease:
considerations for differential diagnosis. Contrib Nephrol
2001; 256-259 |
| 33. Vellodi A, Bembi B, de Villemeur TB, Collin-Histed
T, Erikson A, Mengel E, Rolfs A, Tylki-Szymanska A Management
of neuronopathic Gaucher disease: a European consensus.
J Inherit Metab Dis 2001; 24: 319-327 |
| 34. Wendrich K, Whybra C, Ries M, Gal A, Beck M Neurological
manifestation of Fabry disease in females. Contrib Nephrol
2001; 241-244 |
| 35. Whybra C, Kampmann C, Willers I, Davies J, Winchester
B, Kriegsmann J, Bruhl K, Gal A, Bunge S, Beck M Anderson-Fabry
disease: clinical manifestations of disease in female
heterozygotes. J Inherit Metab Dis 2001; 24: 715-724 |
| 36. Whybra C, Wendrich K, Ries M, Gal A, Beck M Clinical
manifestation in female Fabry disease patients. Contrib
Nephrol 2001; 245-250 |
| 37. Beck M Agalsidase alfa - a preparation for enzyme
replacement therapy in Anderson-Fabry disease. Expert
Opin Investig Drugs 2002; 11: 851-858 |
| 38. Beck M, Wraith JE, Clarke LA, Kolodny EH, Pastores
GM, Muenzer J A phase 3 study of rhIDUA enzyme therapy
for MPS I (Abstract). J Inher Metab Dis 2002; 25 (Suppl.
1): 120 |
| 39. Bembi B, Ciana G, Mengel E, Terk MR, Martini C,
Wenstrup RJ Bone complications in children with Gaucher
disease. Br J Radiol 2002; 75 Suppl 1: A37-44 |
| 40. Kampmann C, Baehner F, Ries M, Beck M Cardiac involvement
in Anderson-Fabry disease. J Am Soc Nephrol 2002; 13 Suppl
2: S147-149 |
| 41. Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff
CM, Ries M, Gal A, Beck M Cardiac manifestations of Anderson-Fabry
disease in heterozygous females. J Am Coll Cardiol 2002;
40: 1668-1674 |
| 42. Kampmann C, Ries M, Baehner F, Kim KS, Bajbouj M,
Beck M Influence of enzyme replacement therapy (ERT) on
Anderson Fabry disease associated hypertrophic infiltrative
cardiomyopathy (HIC). Eur J Pediatr 2002; 161: R5 |
| 43. Kampmann C, Whybra C, Baehner F, Beck M Enzyme replacement
therapy in Anderson-Fabry cardiomyopathy. Heart Metab.
2002; 18: 39-41 |
| 44. Kampmann C, Wiethoff CM, Martin C, Wenzel A, Kampmann
R, Whybra C, Miebach E, Beck M Electrocardiographic signs
of hypertrophy in fabry disease-associated hypertrophic
cardiomyopathy. Acta Paediatr Suppl 2002; 91: 21-27 |
| 45. Kampmann C, Wiethoff CM, Perrot A, Beck M, Dietz
R, Osterziel KJ The heart in Anderson Fabry disease. Z
Kardiol 2002; 91: 786-795 |
| 46. Perrot A, Osterziel KJ, Beck M, Dietz R, Kampmann
C Fabry disease: focus on cardiac manifestations and molecular
mechanisms. Herz 2002; 27: 699-702 |
| 47. Arash L, Bajbouj M, Miebach E, Paschke E, Kampmann
C, Beck M A mild phenotype of Morquio syndrome. Acta Paediatr
Suppl 2003; 92: 125 |
| 48. Baehner F, Kampmann C, Whybra C, Miebach E, Beck
M Quality of life in females with Fabry disease. Acta
Paediatr Suppl 2003; 92: 103 |
| 49. Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff
CM, Beck M Enzyme replacement therapy in heterozygous
females with Fabry disease: results of a phase IIIB study.
J Inherit Metab Dis 2003; 26: 617-627 |
| 50. Baron K, Kim KS, Whybra C, Mengel E, Beck M Thromboembolic
risk factors in Fabry disease. Acta Paediatr Suppl 2003;
92: 98 |
| 51. Beck M Enzymersatz-Therapie bei M. Fabry. Internistische
Praxis 2003; 43: 627-631 |
| 52. Beck M M. Fabry: Neue klinische Erkenntnisse - Aktuelle
therapeutische Perspektiven. Wiener klinische Wochenschrift
2003; 115: 215-217 |
| 53. Beck M, Dehout F, Garcia de Lorenzo A, Linhart A,
Mehta A, Ricci R, Sunder-Plassmann G, Whybra C, Widmer
U Long-term follow-up in FOS - the Fabry Outcome Survey
- confirms beneficial effects of agalsidase alfa in Fabry
disease (Abstract). Eur J Hum Genet 2003; 11, Suppl. 1:
49 |
| 54. Cox TM, Aerts JM, Andria G, Beck M, Belmatoug N,
Bembi B, Chertkoff R, Vom Dahl S, Elstein D, Erikson A,
Giralt M, Heitner R, Hollak C, Hrebicek M, Lewis S, Mehta
A, Pastores GM, Rolfs A, Miranda MC, Zimran A The role
of the iminosugar N-butyldeoxynojirimycin (miglustat)
in the management of type I (non-neuronopathic) Gaucher
disease: a position statement. J Inherit Metab Dis 2003;
26: 513-526 |
| 55. Deegan P, Whybra C, FOS Bo Females in the Fabry
Outcome Survey (FOS). Acta Paediatr Suppl 2003; 92: 106 |
| 56. Dehout F, Schwarting A, Beck M, Mehta A, Ricci R,
Widmer U Effects of enzyme replacement therapy with agalsidase
alfa on glomerular filtration rate in patients with Fabry
disease: preliminary data. Acta Paediatr Suppl 2003; 92:
14-15 |
| 57. Grau AJ, Schwaninger M, Goebel HH, Beck M M. Fabry.
Nervenarzt 2003; 74: 489-496 |
| 58. Harzer K, Rolfs A, Bauer P, Zschiesche M, Mengel
E, Backes J, Kustermann-Kuhn B, Bruchelt G, Van Diggelen
OP, Mayrhofer H, Krageloh-Mann I Niemann-Pick Disease
Type A and B are Clinically but also Enzymatically Heterogeneous:
Pitfall in the Laboratory Diagnosis of Sphingomyelinase
Deficiency Associated with the Mutation Q292 K. Neuropediatrics
2003; 34: 301-306 |
| 59. Kriegsmann J, Otto M, Wandel E, Schwarting A, Faust
J, Hansen T, Beck J, Whybra C, Beck M Morbus Fabry, Glomerulonephritis
mit Halbmondbildung und granulomatöse interstitielle
Nephritis. Pathologe 2003; 24: 439-443 |
| 60. Loveday K, Beck M, Whybra C, Flaherty J Pharmacokinetics
of agalsidase alfa (ReplagalR) in paediatric patients
with Fabry disease. Acta Paediatr Suppl 2003; 92: 105 |
| 61. Mabe P, Beck M Serum hexosaminidase and -glucuronidase
activities in infants: effects of age and sex. Braz J
Med Biol Res 2003; 36: 377-383 |
| 62. Mehta A, Beck M, Dehout F, Garcia de Lorenzo A,
Hauge G, Jaeger P, Kampmann C, Linhart A, Ricci R, Sunder-Plassmann
G, Widmer U Positive European experience with agalsidase
alfa in Fabry disease: update from FOS - the Fabry Outcome
Survey (Abstract). Am J Hum Genet 2003; 73 (Suppl.): 453 |
| 63. Mengel E, Miebach E, Boor R, Schaefer E, Gal A,
Beck M Case report: myoclonic epilepsy in chronic neuronopathic
Gaucher disease. Acta Paediatr Suppl 2003; 92: 118 |
| 64. Paruthiyil L, Mengel E, Beck M A widening spectrum
of neurological involvement in patients with acid sphingomyelinase
deficiency. Acta Paediatr Suppl 2003; 92: 126 |
| 65. Ries M, Mengel E, Kutschke G, Kim KS, Birklein F,
Krummenauer F, Beck M Use of gabapentin to reduce chronic
neuropathic pain in Fabry disease. J Inherit Metab Dis
2003; 26: 413-414 |
| 66. Ries M, Ramaswami U, Parini R, Lindblad B, Whybra
C, Willers I, Gal A, Beck M The early clinical phenotype
of Fabry disease: a study on 35 European children and
adolescents. Eur J Pediatr 2003; 162: 767-772 |
| 67. Schaefer E, Whybra C, Widmer U, Osterziel KJ, Das
A, Deegan P, Beck M, Gal A Analysis of the gene for ?-galactosidase
A in Fabry disease: first-year experience. Acta Paediatr
Suppl 2003; 92: 108 |
| 68. Schulze Frenking G, Niehueser J, Stieb N, Kampmann
C, Haney D, Mueller-Forell W, Vetter T, Beck M Phenotypic
variability in mucopolysaccharidosis type II (Hunter syndrome):
results of a clinical study in 20 patients. Acta Paediatr
Suppl 2003; 92: 124 |
| 69. Wendt S, Mengel E, Beck M Pycnodysostosis in a brother
and sister - a case report. Acta Paediatr Suppl 2003;
92: 128 |
| 70. Whybra C, Arash L, Mengel E, Kampmann C, Schwarting
A, Gal A, Beck M Initial experience with enzyme replacement
therapy in children and adolescents with Fabry disease.
Acta Paediatr Suppl 2003; 92: 104 |
| 71. Whybra C, Ramaswami U, Barba M, Parini R, Ricci
R, Basalla D Fabry disease: patient`s perspectives. Acta
Paediatr Suppl 2003; 92: 103 |
| 72. Baldellou A, Andria G, Campbell PE, Charrow J, Cohen
IJ, Grabowski GA, Harris CM, Kaplan P, McHugh K, Mengel
E, Vellodi A Paediatric non-neuronopathic Gaucher disease:
recommendations for treatment and monitoring. Eur J Pediatr
2004; 163: 67-75 |
| 73. Beck M, Ricci R, Widmer U, Dehout F, de Lorenzo
AG, Kampmann C, Linhart A, Sunder-Plassmann G, Houge G,
Ramaswami U, Gal A, Mehta A Fabry disease: overall effects
of agalsidase alfa treatment. Eur J Clin Invest 2004;
34: 838-844 |
| 74. Grabowski GA, Andria G, Baldellou A, Campbell PE,
Charrow J, Cohen IJ, Harris CM, Kaplan P, Mengel E, Pocovi
M, Vellodi A Pediatric non-neuronopathic Gaucher disease:
presentation, diagnosis and assessment. Consensus statements.
Eur J Pediatr 2004; 163: 58-66 |
| 75. Harmatz P, Giugliani R, Schwartz I, Guffon N, Sa
Miranda MC, Teles EL, Wraith E, Beck M, Hopwood J, Swiedler
SJ: A phase 3, randomized, double-blind, placebo-controlled,
multicenter, multinational clinical study of recombinant
human N-acetylgalactosamine 4-sulfatase (rhASB) in patients
with Mucopolysaccharidosis VI (MPS VI) (abstract). The
American Society of Human Genetics, Toronto, Canada, October
26-30 2004 |
| 76. Kaiser E, Whybra C, Schwarting A, Baron K, Baehner
F, Keune N, Beck M: Anderson-Fabry Disease: Two Years
Experience with Renal Function under Enzyme Replacement
Therapy in Mainz. 41. Congress of the European Renal Association,
Lisbon, 2004 |
| 77. Loveday KS, Beck M, Whybra C, Schiffmann R, Clarke
J, Flaherty J: Pharmacokinetics of Agalsidase Alfa in
Pediatric Fabry Patients. 54th Annual Meeting of the American
Sociey of Human Genetics, Toronto, Ontario, 2004 |
| 78. Mehta A, Ricci R, Widmer U, Dehout F, Garcia De
Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G,
Ries M, Beck M Fabry disease defined: baseline clinical
manifestations of 366 patients in the Fabry Outcome Survey.
Eur J Clin Invest 2004; 34: 236-242 |
| 79. Müller MJ, Müller KM, Dascalescu A, Fellgiebel
A, Mann K, Scheurich A, Whybra C, Beck M, Schmidt LG:
Psychiatric Symptoms and Quality of Life in Patients with
Fabry´s Disease: Preliminary Results of a Prospective
Study. 4th International Symposium on Lysosomal Storage
Diseases, Seville, 2004 |
| 80. Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka
T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb
JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani
R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke
E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T,
Kondo N, Creer M, Noguchi A Development and testing of
new screening method for keratan sulfate in mucopolysaccharidosis
IVA. Pediatr Res 2004; 55: 592-597 |
| 81. Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel
E, Miebach E, Baehner F, Kim K, Bajbouj M, Schwarting
A, Gal A, Beck M The Mainz Severity Score Index: a new
instrument for quantifying the Anderson-Fabry disease
phenotype, and the response of patients to enzyme replacement
therapy. Clin Genet 2004; 65: 299-307 |
| 82. Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores
GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis
ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF Enzyme
replacement therapy for mucopolysaccharidosis I: A randomized,
double-blinded, placebo-controlled, multinational study
of recombinant human alpha-L-iduronidase (laronidase).
J Pediatr 2004; 144: 581-588 |
| 83. Arash L Morbus Tay-Sachs. Klinische Variabilität
und neue Therapie-Ansätze. Neuropaediatrie 2005;
4: 54-56 |
| 84. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach
E, Bajbouj M, Whybra C, Kohlschutter A, Kampmann C, Beck
M Cumulative incidence rates of the mucopolysaccharidoses
in Germany. J Inherit Metab Dis 2005; 28: 1011-1017 |
| 85. Bajbouj M Enzymersatz-Therapie bei Patienten mit
Mukopolysaccharidose Typ I. Neuropaediatrie 2005; 4: 58-60 |
| 86. Beck M Lysosomale Speicherkrankheiten - ein Update.
Neuropaediatrie 2005; 4: 42 |
| 87. Beck M, Harmatz P, Giugliani R, Schwartz I, Guffon
N, Sa Miranda MC, Teles EL, Wraith JE, Scarpa M, Berger
KI, Swiedler SJ Follow-up extension study of a double-blind
phase 3 clinical study of recombinant human Arylsulfatase
B (rhASB) in patients with Mucopolysaccharidosis VI (MPS
VI) (abstract). Eur J Hum Genet 2005; 13, Suppl. 1: 67 |
| 88. Cybulla M, Schaefer E, Wendt S, Ling H, Krober SM,
Hovelborn U, Schandelmaier S, Rohrbach R, Neumann HP Chronic
renal failure and proteinuria in adulthood: Fabry disease
predominantly affecting the kidneys. Am J Kidney Dis 2005;
45: e82-89 |
| 89. Fellgiebel A, Muller MJ, Mazanek M, Baron K, Beck
M, Stoeter P White matter lesion severity in male and
female patients with Fabry disease. Neurology 2005; 65:
600-602 |
| 90. Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M,
Widmer U, Ricci R Effects of enzyme replacement therapy
on pain and health related quality of life in patients
with Fabry disease: data from FOS (Fabry Outcome Survey).
J Med Genet 2005; 42: 247-252 |
| 91. Kampmann C, Baehner FA, Whybra C, Bajbouj M, Baron
K, Knuf M, Wiethoff CM, Trubel H, Beck M The right ventricle
in Fabry disease. Acta Paediatr Suppl 2005; 94: 15-18;
discussion 19-10 |
| 92. Kleinert J, Dehout F, Schwarting A, de Lorenzo AG,
Ricci R, Kampmann C, Beck M, Ramaswami U, Linhart A, Gal
A, Houge G, Widmer U, Mehta A, Sunder-Plassmann G Anemia
is a new complication in Fabry disease: Data from the
Fabry Outcome Survey. Kidney Int 2005; 67: 1955-1960 |
| 93. Mengel E Intermediäre Verlaufsformen der Sphingomyelinase-Defizienz
- Morbus Niemann-Pick A und B. Neuropädiatrie 2005;
4: 50-53 |
| 94. Miebach E Kasuistische Illustration einer Mukopolysaccharidose
Typ VII (Morbus Sly). Neuropaediatrie 2005; 4: 62-64 |
| 95. Muenzer J, Wraight EP, Beck M, Giugliani R, Harmatz
P, Eng CM, Vellodi A, Martin R, Ramaswami U, Calikoglu
M, Vijayaraghavan S, Puga A, Ulbrich B, Shinawi M, Cleary
M, Wendt S: The phase II/III I2S enzyme replacement (ERT)
clinical trial results for MPS II. . 55th Annual Meeting
American Society of Human Genetics, Salt Lake City, Utah,
2005 |
| 96. Muller MJ, Muller KM, Dascalescu A, Whybra C, Baron
K, Scheurich A, Mann K, Beck M, Schmidt LG, Fellgiebel
A Psychiatrische und neuropsychologische Auffälligkeiten
bei Patienten mit Morbus Fabry: Literaturübersicht.
Fortschr Neurol Psychiatr 2005; 73: 687-693 |
| 97. Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM,
Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia
JM, Garman SC, Brady RO, Schiffmann R Pediatric Fabry
disease. Pediatrics 2005; 115: e344-355 |
| 98. Schaefer E, Mehta A, Gal A Genotype and phenotype
in Fabry disease: analysis of the Fabry Outcome Survey.
Acta Paediatr Suppl 2005; 94: 87-92; discussion 79 |
| 99. Schäfer E, Baron K, Widmer U, Deegan P, H PHN,
Sunder-Plassmann G, Johansson JO, Whybra C, Ries M, G
MP, Mehta A, Beck M, Gal A Thirty-four novel mutations
of the GLA gene in 121 patients with Fabry disease. Hum
Mutat 2005; 25: 412 |
| 100. Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz
I, Harmatz P, Wraith JE, Roberts J, Ketteridge D, Hopwood
JJ, Guffon N, Sa Miranda MC, Teles EL, Berger KI, Piscia-Nichols
C Threshold effect of urinary glycosaminoglycans and the
walk test as indicators of disease progression in a survey
of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy
syndrome). Am J Med Genet A 2005; 134A: 144-150 |
| 101. Tomatsu S, Gutierrez MA, Ishimaru T, Pena OM, Montano
AM, Maeda H, Velez-Castrillon S, Nishioka T, Fachel AA,
Cooper A, Thornley M, Wraith E, Barrera LA, Laybauer LS,
Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher
SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki
Y, Orii T, Noguchi A Heparan sulfate levels in mucopolysaccharidoses
and mucolipidoses. J Inherit Metab Dis 2005; 28: 743-757 |
| 102. Tomatsu S, Okamura K, Maeda H, Taketani T, Castrillon
SV, Gutierrez MA, Nishioka T, Fachel AA, Orii KO, Grubb
JH, Cooper A, Thornley M, Wraith E, Barrera LA, Laybauer
LS, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher
SG, Paschke E, Yamaguchi S, Ullrich K, Haskins M, Isogai
K, Suzuki Y, Orii T, Kondo N, Creer M, Okuyama T, Tanaka
A, Noguchi A Keratan sulphate levels in mucopolysaccharidoses
and mucolipidoses. J Inherit Metab Dis 2005; 28: 187-202 |
| 103. van Diggelen OP, Voznyi YV, Keulemans JL, Schoonderwoerd
K, Ledvinova J, Mengel E, Zschiesche M, Santer R, Harzer
K A new fluorimetric enzyme assay for the diagnosis of
Niemann-Pick A/B, with specificity of natural sphingomyelinase
substrate. J Inherit Metab Dis 2005; 28: 733-741 |
| 104. Wendt S, Whybra C, Kampmann C, Teichmann E, Beck
M Successful pregnancy outcome in a patient with Fabry
disease receiving enzyme replacement therapy with agalsidase
alfa. J Inherit Metab Dis 2005; 28: 787-788 |
| 105. Whybra C, Ries M, Kampmann C Klinische Manifestation
des M. Fabry bei Kindern. Neuropaediatrie 2005; 4: 44-48 |
| 106. Beck M Galsulfase: enzyme-replacement therapy for
mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome)
Therapy 2006; 3: 9-17 |
| 107. Beck M The Mainz Severity Score Index (MSSI): development
and validation of a system for scoring the signs and symptoms
of Fabry disease. Acta Paediatr Suppl 2006; 95: 43-46 |
| 108. Beck M Mukopolysaccharidosen. Neue therapeutische
Wege. Monatsschrift Kinderheilkunde 2006; 154: 962-970 |
| 109. Beck M, Widmer U Assessing multiorgan disease severity:
scoring systems and applicability in LSDs. Acta Paediatr
Suppl 2006; 95: 41-42 |
| 110. Deegan PB, Baehner AF, Barba Romero MA, Hughes
DA, Kampmann C, Beck M Natural history of Fabry disease
in females in the Fabry Outcome Survey. J Med Genet 2006;
43: 347-352 |
| 111. Fellgiebel A, Mazanek M, Whybra C, Beck M, Hartung
R, Muller KM, Scheurich A, Dellani PR, Stoeter P, Muller
MJ Pattern of microstructural brain tissue alterations
in Fabry disease : A diffusion-tensor imaging study. J
Neurol 2006; 253: 780-787 |
| 112. Hajioff D, Hegemannn S, Conti G, Beck M, Sunder-Plassmann
G, Widmer U, Mehta A, Keilmann A Agalsidase alpha and
hearing in Fabry disease: data from the Fabry Outcome
Survey. Eur J Clin Invest 2006; 36: 663-667 |
| 113. Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles
EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M,
Yu ZF, Wittes J, Berger KI, Newman MS, Lowe AM, Kakkis
E, Swiedler SJ Enzyme replacement therapy for mucopolysaccharidosis
VI: a phase 3, randomized, double-blind, placebo-controlled,
multinational study of recombinant human N-acetylgalactosamine
4-sulfatase (recombinant human arylsulfatase B or rhASB)
and follow-on, open-label extension study. J Pediatr 2006;
148: 533-539 |
| 114. Hegemann S, Hajioff D, Conti G, Beck M, Sunder-Plassmann
G, Widmer U, Mehta A, Keilmann A Hearing loss in Fabry
disease: data from the Fabry Outcome Survey. Eur J Clin
Invest 2006; 36: 654-662 |
| 115. Jansen T, Mengel E, Beck M, Grabbe S Morbus Gaucher.
Eine Stoffwechselstörung mit typischen kutanen Manifestationen.
Der Deutsche Dermatologe 2006; 3: 166 |
| 116. Kleinert J, Dehout F, Schwarting A, de Lorenzo
AG, Ricci R, Kampmann C, Beck M, Ramaswami U, Linhart
A, Gal A, Houge G, Widmer U, Mehta A, Sunder-Plassmann
G Prevalence of uncontrolled hypertension in patients
with fabry disease. Am J Hypertens 2006; 19: 782-787 |
| 117. Lidove O, Ramaswami U, Jaussaud R, Barbey F, Maisonobe
T, Caillaud C, Beck M, Sunder-Plassmann G, Linhart A,
Mehta A Hyperhidrosis: a new and often early symptom in
Fabry disease. International experience and data from
the Fabry Outcome Survey. Int J Clin Pract 2006; 60: 1053-1059 |
| 118. Maier EM, Osterrieder S, Whybra C, Ries M, Gal
A, Beck M, Roscher AA, Muntau AC Disease manifestations
and X inactivation in heterozygous females with Fabry
disease. Acta Paediatr Suppl 2006; 95: 30-38 |
| 119. Manger B, Mengel E, Schaefer RM Rheumatologic aspects
of lysosomal storage diseases. Clin Rheumatol 2007; 26:
335-341 |
| 120. Manger B, Mengel E, Schaefer RM, Haase C, Seidel
J, Michels H M. Gaucher, M. Fabry und Mukopolysaccharidose
Typ I Wie kann der Rheumatologe diese Patienten erkennen
? Z Rheumatol 2006; 65: 32-43 |
| 121. Mendelson DS, Wasserstein MP, Desnick RJ, Glass
R, Simpson W, Skloot G, Vanier M, Bembi B, Giugliani R,
Mengel E, Cox GF, McGovern MM Type B Niemann-Pick Disease:
Findings at Chest Radiography, Thin-Section CT, and Pulmonary
Function Testing. Radiology 2006; 238: 339-345 |
| 122. Mengel E Sphingolipidosen. Monatsschrift Kinderheilkunde
2006; 154: 945-954 |
| 123. Mengel E, Manger B, Rheumatologie FSid Erste Ergebnisse
der Fortbildungsinitiative zur Erkennung von lysosomalen
Speichererkrankungen in der rheumatologischen Praxis.
Akt Rheumatol 2006; 31: 307-311 |
| 124. Michels H, Mengel E, Huppertz H, Schaefer R Morbus
Gaucher, Mukopolysaccharidose Typ I (Scheie) und M. Fabry.
Spezifisch therapierbare lysosomale Speicherkrankheiten
und wichtige Differenzialdiagnosen zu entzündlich-rheumatischen
Erkrankungen. Monatsschrift Kinderheilkunde 2006; 154:
347-359 |
| 125. Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz
P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu
M, Vijayaraghavan S, Wendt S, Puga A, Ulbrich B, Shinawi
M, Cleary M, Piper D, Conway AM, Kimura A A phase II/III
clinical study of enzyme replacement therapy with idursulfase
in mucopolysaccharidosis II (Hunter syndrome). Genet Med
2006; 8: 465-473 |
| 126. Muller MJ, Fellgiebel A, Scheurich A, Whybra C,
Beck M, Muller KM Recurrent brief depression in a female
patient with Fabry disease. Bipolar Disord 2006; 8: 418-419 |
| 127. Nill M, Muller MJ, Beck M, Stoeter P, Fellgiebel
A [Pathophysiological aspects of brain structural disturbances
in patients with Fabry disease: literature review]. Fortschr
Neurol Psychiatr 2006; 74: 687-695 |
| 128. Ramaswami U, Whybra C, Parini R, Pintos-Morell
G, Mehta A, Sunder-Plassmann G, Widmer U, Beck M Clinical
manifestations of Fabry disease in children: data from
the Fabry Outcome Survey. Acta Paediatr 2006; 95: 86-92 |
| 129. Ries M, Clarke JT, Whybra C, Timmons M, Robinson
C, Schlaggar BL, Pastores G, Lien YH, Kampmann C, Brady
RO, Beck M, Schiffmann R Enzyme-replacement therapy with
agalsidase alfa in children with Fabry disease. Pediatrics
2006; 118: 924-932 |
| 130. Ries M, Schaefer E, Luhrs T, Mani L, Kuhn J, Vanier
MT, Krummenauer F, Gal A, Beck M, Mengel E Critical assessment
of chitotriosidase analysis in the rational laboratory
diagnosis of children with Gaucher disease and Niemann-Pick
disease type A/B and C. J Inherit Metab Dis 2006; 29:
647-652 |
| 131. Safyan R, Whybra C, Beck M, Elstein D, Altarescu
G An association study of inflammatory cytokine gene polymorphisms
in Fabry disease. European cytokine network 2006; 17:
271-275 |
| 132. Schwarting A, Dehout F, Feriozzi S, Beck M, Mehta
A, Sunder-Plassmann G Enzyme replacement therapy and renal
function in 201 patients with Fabry disease. Clin Nephrol
2006; 66: 77-84 |
| 133. Whybra C, Schwarting A, Kriegsmann J, Gal A, Mengel
E, Kampmann C, Baehner F, Schaefer E, Beck M IgA nephropathy
in two adolescent sisters heterozygous for Fabry disease.
Pediatr Nephrol 2006; 21: 1251-1256 |
| 134. Albrecht J, Dellani PR, Muller MJ, Schermuly I,
Beck M, Stoeter P, Gerhard A, Fellgiebel A Voxel based
analyses of diffusion tensor imaging in Fabry disease.
J Neurol Neurosurg Psychiatry 2007; 78: 964-969 |
| 135. Beck M New therapeutic options for lysosomal storage
disorders: enzyme replacement, small molecules and gene
therapy. Hum Genet 2007; 121: 1-22 |
| 136. Beck M The Hunter outcome survey (HOS): A registry
of mucopolysaccharidosis II patients. Mol Genet Metab
2007; 92: S28 |
| 137. Beck M, Wraith E Update on mucopolysaccharidosis
type II. Acta Paediatr Suppl 2007; 96: 55 |
| 138. Beck M, Wraith JE, Lane R, van der Ploeg A, Shapiro
E, Guffon N Safety and efficacy of laronidase in young,
severe patients with mucopolysaccharidosis. Mol Genet
Metab 2007; 92: S18 |
| 139. Cybulla M, Walter K, Neumann HP, Widmer U, Scharer
M, Sunder-Plassmann G, Jansen T, Rolfs A, Beck M [Fabry
disease: demographic data since introduction of enzyme
replacement therapy]. Deutsche medizinische Wochenschrift
(1946) 2007; 132: 1505-1509 |
| 140. Davies EH, Erikson A, Collin-Histed T, Mengel E,
Tylki-Szymanska A, Vellodi A Outcome of type III Gaucher
disease on enzyme replacement therapy: review of 55 cases.
J Inherit Metab Dis 2007; 30: 935-942 |
| 141. Hoffmann B, Beck M, Sunder-Plassmann G, Borsini
W, Ricci R, Mehta A Nature and Prevalence of Pain in Fabry
Disease and Its Response to Enzyme Replacement Therapy-A
Retrospective Analysis From the Fabry Outcome Survey.
Clin J Pain 2007; 23: 535-542 |
| 142. Karageorgos L, Brooks DA, Pollard A, Melville EL,
Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck
M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leao Teles
E, Sa Miranda MC, Hopwood JJ Mutational analysis of 105
mucopolysaccharidosis type VI patients. Hum Mutat 2007;
28: 897-903 |
| 143. Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel
H, Hwu WL, Leslie N, Levine J, Spencer C, McDonald M,
Li J, Dumontier J, Halberthal M, Chien YH, Hopkin R, Vijayaraghavan
S, Gruskin D, Bartholomew D, van der Ploeg A, Clancy JP,
Parini R, Morin G, Beck M, De la Gastine GS, Jokic M,
Thurberg B, Richards S, Bali D, Davison M, Worden MA,
Chen YT, Wraith JE Recombinant human acid ?-glucosidase:
Major clinical benefits in infantile-onset Pompe disease.
Neurology 2007; 68: 99-109 |
| 144. Limberger A, Beck M, Delgado-Sanchez S, Keilmann
A [Hearing loss in patients with Fabry disease.]. Hno
2007; 55: 185-189 |
| 145. Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann
G, Beck M, Mehta A, Elliott PM Cardiac manifestations
of Anderson-Fabry disease: results from the international
Fabry outcome survey. European heart journal 2007; 28:
1228-1235 |
| 146. Lukacs Z, Hartung R, Beck M, Keil A, Mengel E Direct
comparison of enzyme measurements from dried blood and
leukocytes from male and female Fabry disease patients.
J Inherit Metab Dis 2007; 30: 614 |
| 147. Mengel E, Musch A Alglucosidase-alfa. Enzymersatz-Therapie
bei Patienten mit M. Pompe. Arzneimitteltherapie 2007;
25: 40-45 |
| 148. Müller-Forell W, Schulze Frenking G, Amraoui
Y, Beck M Mucopolysaccharidoses (MPS). Clinical and Neuroradiological
Aspects of the Different Types. Clinical Neuroradiology
2007; 17: 141-158 |
| 149. Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes
DA, Pintos-Morell G, Ramaswami U, Parini R, Sunder-Plassman
G, Beck M, Mehta AB Fabry disease and the skin: data from
FOS, the Fabry outcome survey. The British journal of
dermatology 2007; 157: 331-337 |
| 150. Pastores GM, Arn P, Beck M, Clarke JT, Guffon N,
Kaplan P, Muenzer J, Norato DY, Shapiro E, Thomas J, Viskochil
D, Wraith JE The MPS I registry: design, methodology,
and early findings of a global disease registry for monitoring
patients with Mucopolysaccharidosis Type I. Mol Genet
Metab 2007; 91: 37-47 |
| 151. Pitz S, Ogun O, Bajbouj M, Arash L, Schulze-Frenking
G, Beck M Ocular changes in patients with mucopolysaccharidosis
I receiving enzyme replacement therapy: a 4-year experience.
Archives of ophthalmology 2007; 125: 1353-1356 |
| 152. Ramaswami U, Wendt S, Pintos-Morell G, Parini R,
Whybra C, Leon Leal JA, Santus F, Beck M Enzyme replacement
therapy with agalsidase alfa in children with Fabry disease.
Acta Paediatr 2007; 96: 122-127 |
| 153. Ries M, Clarke JT, Whybra C, Mehta A, Loveday KS,
Brady RO, Beck M, Schiffmann R Enzyme replacement in fabry
disease: pharmacokinetics and pharmacodynamics of agalsidase
alfa in children and adolescents. Journal of clinical
pharmacology 2007; 47: 1222-1230 |
| 154. Sodi A, Ioannidis AS, Mehta A, Davey C, Beck M,
Pitz S Ocular manifestations of Fabry's disease: data
from the Fabry Outcome Survey. Br J Ophthalmol 2007; 91:
210-214 |
| 155. Wraith JE, Beck M, Lane R, van der Ploeg A, Shapiro
E, Xue Y, Kakkis ED, Guffon N Enzyme replacement therapy
in patients who have mucopolysaccharidosis I and are younger
than 5 years: results of a multinational study of recombinant
human alpha-L-iduronidase (laronidase). Pediatrics 2007;
120: e37-46 |
| 156. Altarescu G, Chicco G, Whybra C, Delgado-Sanchez
S, Sharon N, Beck M, Elstein D Correlation between interleukin-6
promoter and C-reactive protein (CRP) polymorphisms and
CRP levels with the Mainz Severity Score Index for Fabry
disease. J Inherit Metab Dis 2008; 31: 117-123 |
| 157. Link B, Miebach E, Vetter T, Schmitt D, Beck M,
Meurer A Mukopolysaccharidosen. Der Orthopäde 2008;
37: 24-30 |
| 158. Martin R, Beck M, Eng C, Giugliani R, Harmatz P,
Munoz V, Muenzer J Recognition and Diagnosis of Mucopolysaccharidosis
II (Hunter Syndrome). Pediatrics 2008; 121: e377-386 |
| 159. Michels H, Mengel E Lysosomal storage diseases
as differential diagnoses to rheumatic disorders. Current
opinion in rheumatology 2008; 20: 76-81 |
| 160. Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen
E, Cooper A, Cupler E, Deschauer M, Fumic K, Jackson M,
Kishnani P, Lacerda L, Ledvinova J, Lugowska A, Lukacs
Z, Maire I, Mandel H, Mengel E, Muller-Felber W, Piraud
M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen
F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J Methods
for a prompt and reliable laboratory diagnosis of Pompe
disease: Report from an international consensus meeting.
Mol Genet Metab 2008; 93: 275-281 |
| 161. Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir
L, Guffon N, Meldgaard Lund A, Malm G, Van der Ploeg AT,
Zeman J Mucopolysaccharidosis type II (Hunter syndrome):
a clinical review and recommendations for treatment in
the era of enzyme replacement therapy. Eur J Pediatr 2008;
167: 267-277 |
| 162. Beck M Orphan Drug Clinical Trials - The Global
Impact. The Monitor 2008; 22: 39-42 |
| 163. Harmatz P, Giugliani R, D. Schwartz IV, Guffon
N, Teles EL, Miranda MCS, Wraith JE, Beck M, Arash L,
Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner
R, Whitley CB, Kaplan P, Yu Z-F, Swiedler SJ, Decker C
Long-term follow-up of endurance and safety outcomes during
enzyme replacement therapy for mucopolysaccharidosis VI:
Final results of three clinical studies of recombinant
human N-acetylgalactosamine 4-sulfatase. Molecular Genetics
and Metabolism 2008; 94: 469-475 |
| 164. Hoffmann B, Beck M, Rolfs A, Neumann HP [Fabry
disease - complex clinical picture, simple diagnosis procedure,
causal treatment]. Dtsch Med Wochenschr 2008; 133: 1965-1972;
quiz 1973-1964 |
| 165. Kampmann C, Linhart A, Baehner F, Palecek T, Wiethoff
CM, Miebach E, Whybra C, Gal A, Bultas J, Beck M Onset
and progression of the Anderson-Fabry disease related
cardiomyopathy. Int J Cardiol 2008; 130: 367-373 |
| 166. Kampmann C, Wiethoff CM, Whybra C, Baehner FA,
Mengel E, Beck M Cardiac manifestations of Anderson-Fabry
disease in children and adolescents. Acta Paediatr 2008;
97: 463-469 |
| 167. Landvogt C, Mengel E, Bartenstein P, Buchholz HG,
Schreckenberger M, Siessmeier T, Scheurich A, Feldmann
R, Weglage J, Cumming P, Zepp F, Ullrich K Reduced cerebral
fluoro-L-dopamine uptake in adult patients suffering from
phenylketonuria. J Cereb Blood Flow Metab 2008; 28: 824-831 |
| 168. McGovern MM, Wasserstein MP, Giugliani R, Bembi
B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot
G, Desnick RJ, Kuriyama N, Cox GF A prospective, cross-sectional
survey study of the natural history of Niemann-Pick disease
type B. Pediatrics 2008; 122: e341-349 |
| 169. Meikle PJ, Whitfield PD, Rozaklis T, Blacklock
D, Duplock S, Elstein D, Zimran A, Mengel E, Cannell P,
Hopwood JJ, Fuller M Plasma lipids are altered in Gaucher
disease: biochemical markers to evaluate therapeutic intervention.
Blood Cells Mol Dis 2008; 40: 420-427 |
| 170. Rohard I, Schaefer E, Kampmann C, Beck M, Gal A
Association between polymorphisms of endothelial nitric
oxide synthase gene (NOS3) and left posterior wall thickness
(LPWT) of the heart in Fabry disease. J Inherit Metab
Dis 2008; 31: 773 |
| 171. Schumacher RG, Brzezinska R, Schulze-Frenking G,
Pitz S Sonographic ocular findings in patients with mucopolysaccharidoses
I, II and VI. Pediatr Radiol 2008; 38: 543-550 |
| 172. Teitcher M, Weinerman S, Whybra C, Beck M, Sharon
N, Elstein D, Altarescu G Genetic polymorphisms of vitamin
D receptor (VDR) in Fabry disease. Genetica 2008; 134:
377-383 |
| 173. Thomaidis T, Relle M, Golbas M, Brochhausen C,
Galle PR, Beck M, Schwarting A Downregulation of ?-galactosidase
A upregulates CD77: functional impact for Fabry nephropathy.
Kidney Int 2008; 75: 399-407 |
| 174. Wraith JE, Beck M, Giugliani R, Clarke J, Martin
R, Muenzer J Initial report from the Hunter Outcome Survey.
Genet Med 2008; 10: 508-516 |
| 175. Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir
L, Guffon N, Meldgaard Lund A, Malm G, Van der Ploeg AT,
Zeman J Mucopolysaccharidosis type II (Hunter syndrome):
a clinical review and recommendations for treatment in
the era of enzyme replacement therapy. Eur J Pediatr 2008;
167: 267-277 |
| 176. Beck M Agalsidase alfa for the treatment of Fabry
disease: new data on clinical efficacy and safety. Expert
Opinion on Biological Therapy 2009; 9: 255-261 |
| 177. Beck M Alglucosidase alfa: Long term
use in the treatment of patients with Pompe disease. Ther
Clin Risk Manag 2009; 5: 767-772 |
| 178. Clarke LA, Wraith JE, Beck M, Kolodny
EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Sidman
M, Kakkis ED, Cox GF Long-term Efficacy and Safety of
Laronidase in the Treatment of Mucopolysaccharidosis I.
Pediatrics 2009; 123: 229-240 |
| 179. Fellgiebel A, Keller I, Marin D, Muller MJ, Schermuly
I, Yakushev I, Albrecht J, Bellhauser H, Kinateder M,
Beck M, Stoeter P Diagnostic utility of different MRI
and MR angiography measures in Fabry disease. Neurology
2009; 72: 63-68 |
| 180. Hofer D, Paul K, Fantur K, Beck M,
Burger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A,
Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke
E GM1 gangliosidosis and Morquio B disease: expression
analysis of missense mutations affecting the catalytic
site of acid beta-galactosidase. Hum Mutat 2009; 30: 1214-1221 |
| 181. Jones SA, Almassy Z, Beck M, Burt K, Clarke JT,
Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP,
Malm G, Ramaswami U, Tincheva R, Wraith JE Mortality and
cause of death in mucopolysaccharidosis type II-a historical
review based on data from the Hunter Outcome Survey (HOS).
J Inherit Metab Dis 2009; 32: 534-543 |
| 182. Kalkum G, Macchiella D, Reinke J, Kolbl
H, Beck M Enzyme replacement therapy with agalsidase alfa
in pregnant women with Fabry disease. Eur J Obstet Gynecol
Reprod Biol 2009; 144: 92-93 |
| 183. Kampmann C, Linhart A, Devereux RB,
Schiffmann R Effect of agalsidase alfa replacement therapy
on fabry disease-related hypertrophic cardiomyopathy:
a 12- to 36-month, retrospective, blinded echocardiographic
pooled analysis. Clin Ther 2009; 31: 1966-1976 |
| 184. Kishnani PS, Corzo D, Leslie ND, Gruskin
D, Van der Ploeg A, Clancy JP, Parini R, Morin G, Beck
M, Bauer MS, Jokic M, Tsai CE, Tsai BW, Morgan C, O'Meara
T, Richards S, Tsao EC, Mandel H Early treatment with
alglucosidase alpha prolongs long-term survival of infants
with Pompe disease. Pediatr Res 2009; 66: 329-335 |
| 185. Lukacs Z, Nieves Cobos P, Mengel E,
Hartung R, Beck M, Deschauer M, Keil A, Santer R Diagnostic
efficacy of the fluorometric determination of enzyme activity
for Pompe disease from dried blood specimens compared
with lymphocytes-possibility for newborn screening. J
Inherit Metab Dis 2009; |
| 186. Mehta A, Beck M, Elliott P, Giugliani
R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey
F, Ries M, Clarke JT Enzyme replacement therapy with agalsidase
alfa in patients with Fabry's disease: an analysis of
registry data. Lancet 2009; 374: 1986-1996 |
| 187. Mehta A, Clarke JT, Giugliani R, Elliott
P, Linhart A, Beck M, Sunder-Plassmann G Natural course
of Fabry disease: changing pattern of causes of death
in FOS - Fabry Outcome Survey. J Med Genet 2009; 46: 548-552 |
| 188. Muenzer J, Beck M, Eng CM, Escolar
ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann
C, Koseoglu ST, Link B, Martin RA, Molter DW, Munoz Rojas
MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, Schwartz
IV, Wood RE, Wraith E Multidisciplinary management of
Hunter syndrome. Pediatrics 2009; 124: e1228-1239 |
| 189. Pineda M, Wraith JE, Mengel E, Sedel
F, Hwu WL, Rohrbach M, Bembi B, Walterfang M, Korenke
GC, Marquardt T, Luzy C, Giorgino R, Patterson MC Miglustat
in patients with Niemann-Pick disease Type C (NP-C): a
multicenter observational retrospective cohort study.
Mol Genet Metab 2009; 98: 243-249 |
| 190. Pintos-Morell G, Beck M Fabry disease
in children and the effects of enzyme replacement treatment.
Eur J Pediatr 2009; 168: 1355-1363 |
| 191. Pitz S, Grube-Einwald K, Renieri G,
Reinke J Subclinical optic neuropathy in Fabry disease.
Ophthalmic Genet 2009; 30: 165-171 |
| 192. Pitz S, Ogun O, Arash L, Miebach E,
Beck M Does enzyme replacement therapy influence the ocular
changes in type VI mucopolysaccharidosis? Graefes Arch
Clin Exp Ophthalmol 2009; 247: 975-980 |
| 193. Schlander M, Beck M Expensive drugs
for rare disorders: to treat or not to treat? The case
of enzyme replacement therapy for mucopolysaccharidosis
VI. Curr Med Res Opin 2009; 25: 1285-1293 |
| 194. Schwartz IV, Artigalas O, Ries M, Clarke
JT, Giugliani R, Beck M Punctate calcifications in lysosomal
storage disorders. Clin Dysmorphol 2009; 18: 172-177 |
| 195. Thomaidis T, Relle M, Reinke J, Beck
M, Schwarting A [Effect of enzyme replacement therapy
(ERT) on renal function of patients with Fabry's disease].
Med Klin (Munich) 2009; 104: 699-703 |
| 196. Vellodi A, Tylki-Szymanska A, Davies
EH, Kolodny E, Bembi B, Collin-Histed T, Mengel E, Erikson
A, Schiffmann R Management of neuronopathic Gaucher disease:
revised recommendations. J Inherit Metab Dis 2009; 32:
660-664 |
| 197. Wenzel JJ, Rossmann H, Kullmer U, Oberman
B, Mengel E, Lackner KJ, Lotz J Chronic diarrhea in a
5-year-old girl: pitfall in routine laboratory testing
with potentially severe consequences. Clin Chem 2009;
55: 1026-1030; discussion 1030-1021 |
| 198. West M, Nicholls K, Mehta A, Clarke
JTR, Steiner R, Beck M, Barshop BA, Rhead W, Mensah R,
Ries M, Schiffmann R Agalsidase Alfa and Kidney Dysfunction
in Fabry Disease. J Am Soc Nephrol 2009; 20: 1132-1139 |
| 199. Whybra C, Miebach E, Mengel E, Gal
A, Baron K, Beck M, Kampmann C A 4-year study of the efficacy
and tolerability of enzyme replacement therapy with agalsidase
alfa in 36 women with Fabry disease. Genet Med 2009; 11:
441-449 |
| 200. Zimran A, Morris E, Mengel E, Kaplan
P, Belmatoug N, Hughes DA, Malinova V, Heitner R, Sobreira
E, Mrsic M, Granovsky-Grisaru S, Amato D, vom Dahl S The
female Gaucher patient: the impact of enzyme replacement
therapy around key reproductive events (menstruation,
pregnancy and menopause). Blood Cells Mol Dis 2009; 43:
264-288 |
| 201. Beck M Therapy for lysosomal storage
disorders. IUBMB Life 2010; 62: 33-40 |
| 202. Beck M Emerging drugs for lysosomal
storage diseases. Expert Opin Emerg Drugs 2010; |
| 203. Beck M, Muenzer J, Scarpa M Evaluation
of disease severity in mucopolysaccharidoses. Journal
of Pediatric Rehabilitation Medicine 2010; 3: 39-46 |
| 204. Giannini EH, Mehta AB, Hilz MJ, Beck
M, Bichet DG, Brady RO, West M, Germain DP, Wanner C,
Waldek S, Clarke JT, Mengel E, Strotmann JM, Warnock DG,
Linhart A A validated disease severity scoring system
for Fabry disease. Mol Genet Metab 2010; 99: 283-290 |
| 205. Hahn A, Mengel E, Reinke J, von Landenberg
P, Tanislav C, Merz C, Neubauer BA Enzymersatztherapie
bei Morbus Fabry. Monatsschrift Kinderheilkunde 2010;
158: 477-479 |
| 206. Harmatz P, Yu ZF, Giugliani R, Schwartz
IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M,
Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B,
Steiner R, Whitley CB, Kaplan P, Swiedler SJ, Hardy K,
Berger KI, Decker C Enzyme replacement therapy for mucopolysaccharidosis
VI: evaluation of long-term pulmonary function in patients
treated with recombinant human N-acetylgalactosamine 4-sulfatase.
J Inherit Metab Dis 2010; 33: 51-60 |
| 207. Hofer D, Paul K, Fantur K, Beck M,
Rouberge A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko
B, Paschke E Phenotype determining alleles in GM1 gangliosidosis
patients bearing novel GLB1 mutations. Clin Genet 2010;
|
| 208. Hollak CE, vom Dahl S, Aerts JM, Belmatoug
N, Bembi B, Cohen Y, Collin-Histed T, Deegan P, van Dussen
L, Giraldo P, Mengel E, Michelakakis H, Manuel J, Hrebicek
M, Parini R, Reinke J, di Rocco M, Pocovi M, Sa Miranda
MC, Tylki-Szymanska A, Zimran A, Cox TM Force Majeure:
therapeutic measures in response to restricted supply
of imiglucerase (Cerezyme) for patients with Gaucher disease.
Blood Cells Mol Dis 2010; 44: 41-47 |
| 209. Kottler U, Demir D, Schmidtmann I,
Beck M, Pitz S Central corneal thickness in mucopolysaccharidosis
II and VI. Cornea 2010; 29: 260-262 |
| 210. Kruger R, Bruns K, Grunhage S, Rossmann
H, Reinke J, Beck M, Lackner KJ Determination of globotriaosylceramide
in plasma and urine by mass spectrometry. Clin Chem Lab
Med 2010; 48: 189-198 |
| 211. Lukacs Z, Nieves Cobos P, Mengel E,
Hartung R, Beck M, Deschauer M, Keil A, Santer R Diagnostic
efficacy of the fluorometric determination of enzyme activity
for Pompe disease from dried blood specimens compared
with lymphocytes-possibility for newborn screening. J
Inherit Metab Dis 2010; 33: 43-50 |
| 212. Strothotte S, Strigl-Pill N, Grunert
B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig
F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners
K, Muller-Felber W, Mengel E, Spranger M, Schoser B Enzyme
replacement therapy with alglucosidase alfa in 44 patients
with late-onset glycogen storage disease type 2: 12-month
results of an observational clinical trial. J Neurol 2010;
257: 91-97 |
| 213. Thomas JA, Beck M, Clarke JT, Cox GF Childhood
onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis
I. J Inherit Metab Dis 2010; 33: 421-427 |
| 214. Wasielica-Poslednik J, Pfeiffer N, Reinke J, Pitz
S. Confocal laser-scanning microscopy allows differentiation
between Fabry disease and amiodarone-induced keratopathy.
Graefes Arch Clin Exp Ophthalmol. 2011. |
| 215. Tangemo C, Weber D, Theiss S, Mengel E, Runz H.
Niemann-Pick Type C disease: characterizing lipid levels
in patients with variant lysosomal cholesterol storage.
Journal of lipid research. 2011;52(4):813-25. |
| 216. Schulze-Frenking G, Jones SA, Roberts J, Beck M,
Wraith JE. Effects of enzyme replacement therapy on growth
in patients with mucopolysaccharidosis type II. Journal
of inherited metabolic disease. 2011;34(1):203-8. |
| 217. Schopfer K, Miebach E, Beck M, Pitz S. [Lysosomal
Storage Diseases - Update and New Therapeutic Options.].
Klinische Monatsblatter fur Augenheilkunde. 2011;228(2):144-60. |
| 218. Ramaswami U, Parini R, Kampmann C, Beck M. Safety
of agalsidase alfa in patients with Fabry disease under
7 years. Acta paediatrica. 2011;100(4):605-11. |
| 219. Muenzer J, Beck M, Giugliani R, et al. Idursulfase
treatment of Hunter syndrome in children younger than
6 years: results from the Hunter Outcome Survey. Genetics
in medicine : official journal of the American College
of Medical Genetics. 2011;13(2):102-9. |
| 220. Muenzer J, Beck M, Eng CM, et al. Long-term, open-labeled
extension study of idursulfase in the treatment of Hunter
syndrome. Genetics in medicine : official journal of the
American College of Medical Genetics. 2011;13(2):95-101. |
| 221. Kampmann C, Beck M, Morin I, Loehr
JP. Prevalence and characterization of cardiac involvement
in hunter syndrome. J Pediatr. 2011;159(2):327-31 e2. |
| 222. Granovsky-Grisaru S, Belmatoug N, vom Dahl S, Mengel
E, Morris E, Zimran A. The management of pregnancy in
Gaucher disease. Eur J Obstet Gynecol Reprod Biol. 2011;156(1):3-8. |
| 223. Beck M. Mucopolysaccharidosis Type II (Hunter Syndrome):
Clinical Picture and Treatment. Current pharmaceutical
biotechnology. 2011;12(6):861-6. |
| 224. vom Dahl S, Mengel E. Lysosomal storage diseases
as differential diagnosis of hepatosplenomegaly. Best
Pract Res Clin Gastroenterol. 2010;24(5):619-28. |
|
Langenbeckstraße 2