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Publikationen der AG Lysosomale Speicherkrankheiten

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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.