Common hereditary lysosomal storage diseases


Key articles

Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017 Feb 17;18(2):441.Full text  Abstract

Germain DP. Fabry disease. Orphanet J Rare Dis. 2010 Nov 22;5:30.Full text  Abstract

Patterson MC, Clayton P, Gissen P, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: an update. Neurol Clin Pract. 2017 Dec;7(6):499-511.Full text  Abstract

Reference articles

1. Vellodi A. Lysosomal storage disorders. Br J Haematol. 2005 Feb;128(4):413-31. Abstract

2. Cox TM, Cachón-González MB. The cellular pathology of lysosomal diseases. J Pathol. 2012 Jan;226(2):241-54. Abstract

3. Mehta A, Winchester B, eds. Lysosomal storage disorders. A practical guide. Oxford: Wiley-Blackwell; 2012.

4. Peters H, Ellaway C, Nicholls K, et al. Treatable lysosomal storage diseases in the advent of disease-specific therapy. Intern Med J. 2020 Nov;50 (suppl 4):5-27.Full text  Abstract

5. Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20;281(3):249-54.Full text  Abstract

6. Dionisi-Vici C, Rizzo C, Burlina AB, et al. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr. 2002 Mar;140(3):321-7. Abstract

7. Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999 Jul-Aug;105(1-2):151-6. Abstract

8. Poupetová H, Ledvinová J, Berná L, et al. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis. 2010 Aug;33(4):387-96.Full text  Abstract

9. Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis. 2005 Nov-Dec;35(3):355-64. Abstract

10. Beutler E, Nguyen NJ, Henneberger MW, et al. Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet. 1993 Jan;52(1):85-8.Full text  Abstract

11. MacDermot K, Holmes A, Miners A. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001 Nov;38(11):750-60.Full text  Abstract

12. Rolfs A, Bottcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005 Nov 19;366(9499):1794-6. Abstract

13. Monserrat L, Gimeno-Blanes JR, Marin F, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007 Dec 18;50(25):2399-403. Abstract

14. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006 Jul;79(1):31-40.Full text  Abstract

15. Ries M, Ramaswami U, Parini R, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr. 2003 Nov;162(11):767-72. Abstract

16. Ramaswami U, Whybra C, Parini R, et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr. 2006 Jan;95(1):86-92. Abstract

17. Kaback M, Lim-Steele J, Dabholkar D, et al. Tay-Sachs disease - carrier screening, pre-natal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA. 1993 Nov 17;270(19):2307-15. Abstract

18. Kirkilionis AJ, Riddell DC, Spence MW, et al. Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone. J Med Genet. 1991 Apr;28(4):232-40.Full text  Abstract

19. Maegawa GH, Stockley T, Tropak M, et al. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics. 2006 Nov;118(5):e1550-62.Full text  Abstract

20. Futerman AH, van Meer G. The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol. 2004 Jul;5(7):554-65. Abstract

21. Brady R. Enzyme replacement therapy for lysosomal diseases. Annu Rev Med. 2006;57:283-96. Abstract

22. Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gauchers disease. Biochem Biophys Res Commun. 1965 Jan 18;18:221-5. Abstract

23. Lloyd-Evans E, Pelled D, Riebeling C, et al. Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J Biol Chem. 2003 Jun 27;278(26):23594-9.Full text  Abstract

24. Jolly RD, Brown S, Das AM, et al. Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease). Neurochem Int. 2002 May;40(6):565-71. Abstract

25. Allen MJ, Myer BJ, Khokher AM, et al. Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM. 1997 Jan;90(1):19-25. Abstract

26. Hollak CE, van Weely S, van Oers MH, et al. Marked elevation of plasma chitotriosidase activity: a novel hallmark of Gaucher disease. J Clin Invest. 1994 Mar;93(3):1288-92.Full text  Abstract

27. Brinkman J, Wijburg FA, Hollak CE, et al. Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann Pick disease. J Inherit Metab Dis. 2005;28(1):13-20. Abstract

28. Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008 Feb 26;105(8):2812-7.Full text  Abstract

29. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017 Feb 17;18(2):441.Full text  Abstract

30. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010 Nov 22;5:30.Full text  Abstract

31. Gravel RA, Triggs-Raine BL, Mahuran DJ. Biochemistry and genetics of Tay-Sachs disease. Can J Neurol Sci. 1991 Aug;18(3 suppl):419-23. Abstract

32. Lloyd-Evans E, Morgan AJ, He X, et al. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med. 2008 Nov;14(11):1247-55. Abstract

33. Cimaz R, La Torre F. Mucopolysaccharidoses. Curr Rheumatol Rep. 2014 Jan;16(1):389. Abstract

34. van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008 Oct 11;372(9646):1342-53. Abstract

35. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Fabry Registrar. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registrar. Mol Genet Metab. 2008 Feb;93(2):112-28. Abstract

36. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001 Nov;38(11):769-75.Full text  Abstract

37. Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004 Mar;34(3):236-42. Abstract

38. Deegan PB, Baehner AF, Barba Romero MA, et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006 Apr;43(4):347-52.Full text  Abstract

39. Weidemann F, Niemann M, Sommer C, et al. Interdisciplinary approach towards female patients with Fabry disease. Eur J Clin Invest. 2012 Apr;42(4):455-62. Abstract

40. Bodamer OA, Scott CR, Giugliani R, et al. Newborn screening for Pompe disease. Pediatrics. 2017 Jul;140(suppl 1):S4-S13.Full text  Abstract

41. Beutler E. Carrier screening for Gaucher disease: more harm than good? JAMA. 2007 Sep 19;298(11):1329-31. Abstract

42. Zuckerman S, Lahad A, Shmueli A, et al. Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA. 2007 Sep 19;298(11):1281-90.Full text  Abstract

43. Grabowski GA. Phenotype, diagnosis, and treatment of Gauchers disease. Lancet. 2008 Oct 4;372(9645):1263-71. Abstract

44. Maas M, Hangartner T, Mariani G, et al. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Skeletal Radiol. 2008 Mar;37(3):185-8.Full text  Abstract

45. Winter AW, Salimi A, Ospina LH, et al. Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder. Br J Ophthalmol. 2019 Mar;103(3):315-26. Abstract

46. Zarate AY, Hopkin RJ. Fabry's disease. Lancet. 2008 Oct 18;372(9647):1427-35. Abstract

47. Benz K, Hahn P, Hanisch M, et al. Systematic review of oral and craniofacial findings in patients with Fabry disease or Pompe disease. Br J Oral Maxillofac Surg. 2019 Nov;57(9):831-8. Abstract

48. Muenzer J, Wraith JE, Clarke LA, et al. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009 Jan;123(1):19-29. Abstract

49. Muenzer J. The mucopolysaccharidoses: a heterogenous group of disorders with variable pediatric presentations. J Pediatr. 2004 May;144(5 suppl):S27-34. Abstract

50. Wolfenden C, Wittkowski A, Hare DJ. Symptoms of autism spectrum disorder (ASD) in individuals with mucopolysaccharide disease type III (Sanfilippo syndrome): a systematic review. J Autism Dev Disord. 2017 Nov;47(11):3620-33.Full text  Abstract

51. Galimberti C, Madeo A, Di Rocco M, et al. Mucopolysaccharidoses: early diagnostic signs in infants and children. Ital J Pediatr. 2018 Nov 16;44(suppl 2):133.Full text  Abstract

52. Kishnani PS, Hwu WL, Mandel H, et al. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006 May;148(5):671-6. Abstract

53. Kishnani PS, Steiner RD, Bali D, et al; ACMG Work Group on Management of Pompe Disease. Pompe disease diagnosis and management guideline. Genet Med. 2006 May;8(5):267-88.Full text  Abstract

54. Hwang B, Meng CC, Lin CY, et al. Clinical analysis of five infants with glycogen storage disease of the heart--Pompe's disease. Jpn Heart J. 1986 Jan;27(1):25-34. Abstract

55. Hagemans ML, Winkel LP, Van Doorn PA, et al. Clinical manifestations and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain. 2005 Mar;128(Pt 3):671-7.Full text  Abstract

56. Patterson MC, Clayton P, Gissen P, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: an update. Neurol Clin Pract. 2017 Dec;7(6):499-511.Full text  Abstract

57. Bonnot O, Klünemann HH, Velten C, et al. Systematic review of psychiatric signs in Niemann-Pick disease type C. World J Biol Psychiatry. 2019 Apr;20(4):320-32. Abstract

58. Chen H, Chan AY, Stone DU, et al. Beyond the cherry-red spot: ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders. Surv Ophthalmol. 2014 Jan-Feb;59(1):64-76.Full text  Abstract

59. Neudorfer O, Pastores GM, Zeng BJ, et al. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med. 2005 Feb;7(2):119-23.Full text  Abstract

60. Rosebush PI, MacQueen GM, Clarke JT, et al. Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues. J Clin Psychiatry. 1995 Aug;56(8):347-53. Abstract

61. Jack RM, Gordon C, Scott CR, et al. The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genet Med. 2006 May;8(5):307-12. Abstract

62. Wood T, Bodamer OA, Burin MG, et al. Expert recommendations for the laboratory diagnosis of MPS VI. Mol Genet Metab. 2012 May;106(1):73-82. Abstract

63. Byers S, Rozaklis T, Brumfield LK, et al. Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS. Mol Genet Metab. 1998 Dec;65(4):282-90. Abstract

64. An Y, Young SP, Kishnani PS, et al. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab. 2005 Aug;85(4):247-54. Abstract

65. Beutler E, Gelbart T, Kuhl W, et al. Mutations in Jewish patients with Gaucher disease. Blood. 1992 Apr 1;79(7):1662-6.Full text  Abstract

66. Velayati A, Knight MA, Stubblefield BK, et al. Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease. J Mol Diagn. 2011 Jul;13(4):401-5.Full text  Abstract

67. Noonan SM, Weiss L, Riddle JM. Ultrastructural observations of cytoplasmic inclusions in Tay-Sachs lymphocytes. Arch Pathol Lab Med. 1976 Nov;100(11):595-600. Abstract

68. Salles II, Feys HB, Iserbyt BF, et al. Inherited traits affecting platelet function. Blood Rev. 2008 May;22(3):155-72. Abstract

69. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018 Apr;123(4):416-27.Full text  Abstract

70. Nair V, Belanger EC, Veinot JP. Lysosomal storage disorders affecting the heart: a review. Cardiovasc Pathol. 2019 Mar - Apr;39:12-24. Abstract

71. von Ranke FM, Pereira Freitas HM, Mançano AD, et al. Pulmonary involvement in Niemann-Pick disease: a state-of-the-art review. Lung. 2016 Aug;194(4):511-8. Abstract

72. Pandey MK, Grabowski GA. Immunological cells and functions in Gaucher disease. Crit Rev Oncog. 2013;18(3):197-220.Full text  Abstract

73. Vissing J, Lukacs Z, Straub V. Diagnosis of Pompe disease: muscle biopsy vs blood-based assays. JAMA Neurol. 2013 Jul;70(7):923-7. Abstract

74. Alroy J, Ucci AA. Skin biopsy: a useful tool in the diagnosis of lysosomal storage diseases. Ultrastruct Pathol. 2006 Nov-Dec;30(6):489-503. Abstract

75. Lakomá J, Donadio V, Liguori R, et al. Characterization of human dermal fibroblasts in Fabry disease. J Cell Physiol. 2016 Jan;231(1):192-203. Abstract

76. Simpson WL, Hermann G, Balwani M. Imaging of Gaucher disease. World J Radiol. 2014 Sep 28;6(9):657-68.Full text  Abstract

77. Perry R, Shah R, Saiedi M, et al. The role of cardiac imaging in the diagnosis and management of Anderson-Fabry Disease. JACC Cardiovasc Imaging. 2019 Jul;12(7 pt 1):1230-42.Full text  Abstract

78. Ginsberg L, Manara R, Valentine AR, et al. Magnetic resonance imaging changes in Fabry disease. Acta Paediatr Suppl. 2006 Apr;95(451):57-62. Abstract

79. Spina V, Barbuti D, Gaeta A, et al. The role of imaging in the skeletal involvement of mucopolysaccharidoses. Ital J Pediatr. 2018 Nov 16;44(suppl 2):118.Full text  Abstract

80. Hampe CS, Eisengart JB, Lund TC, et al. Mucopolysaccharidosis type I: a review of the natural history and molecular pathology. Cells. 2020 Aug 5;9(8):1838.Full text  Abstract

81. Schuchman EH, Wasserstein MP. Types A and B Niemann-Pick disease. Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:674-81. Abstract

82. US National Library of Medicine. MedlinePlus. Tay-Sachs disease. Sep 2021 [internet publication].Full text

83. Tylki-Szymańska A. Mucopolysaccharidosis type II, Hunter's syndrome. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:107-13. Abstract

84. van Capelle CI, van der Meijden JC, van den Hout JM, et al. Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet J Rare Dis. 2016 May 18;11(1):65.Full text  Abstract

85. Hagemans ML, van Schie SP, Janssens AC, et al. Fatigue: an important feature of late-onset Pompe disease. J Neurol. 2007 Jul;254(7):941-5.Full text  Abstract

86. Pascarella A, Terracciano C, Farina O, et al. Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. J Cell Physiol. 2018 Aug;233(8):5829-37. Abstract

87. Di Rocco M, Giona F, Carubbi F, et al. A new severity score index for phenotypic classification and evaluation of responses to treatment in type 1 Gaucher disease. Haematologica. 2008 Aug;93(8):1211-8.Full text  Abstract

88. Zimran A, Elstein D, Kannai R, et al. Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment. Am J Med. 1994 Jul;97(1):3-13. Abstract

89. Whybra C, Kampmann C, Krummenauer F, et al. 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 Apr;65(4):299-307. Abstract

90. Escolar ML, Poe MD, Martin HR, et al. A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. Pediatrics. 2006 Sep;118(3):e879-89. Abstract

91. Meikle PJ, Grasby DJ, Dean CJ, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab. 2006 Aug;88(4):307-14. Abstract

92. Kwon JM, Matern D, Kurtzberg J, et al. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis. 2018 Feb 1;13(1):30.Full text  Abstract

93. Invitae. Detect lysosomal storage diseases [internet publication].Full text

94. Mechtler TP, Stary S, Metz TF, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012 Jan 28;379(9813):335-41. Abstract

95. Linthorst GE. Screening for Fabry disease in high-risk populations: a systematic review. J Med Genetics. 2010 Apr;47(4):217-22. Abstract

96. Wang RY, Bodamer OA, Watson MS, et al. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May;13(5):457-84.Full text  Abstract

97. Gross SJ, Pletcher BA, Monaghan KG, et al. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008 Jan;10(1):54-6.Full text  Abstract

98. McGovern MM, Dionisi-Vici C, Giugliani R, et al. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genet Med. 2017 Sep;19(9):967-74.Full text  Abstract

99. Wienreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol. 2004 Oct;41(4 suppl 5):15-22. Abstract

100. Puri RD, Kapoor S, Kishnani PS, et al. Diagnosis and management of Gaucher disease in India - consensus guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatr. 2018 Feb 15;55(2):143-53.Full text  Abstract

101. Scarpa M, Almássy Z, Beck M, et al. Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis. 2011 Nov 7;6:72.Full text  Abstract

102. Hughes D, Cappellini MD, Berger M, et al. Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. Br J Haematol. 2007 Sep;138(6):676-86.Full text  Abstract

103. Kaplan P, Baris H, De Meirleir L, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013 Apr;172(4):447-58. Abstract

104. Kałużna M, Trzeciak I, Ziemnicka K, et al. Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review. Orphanet J Rare Dis. 2019 Dec 2;14(1):275.Full text  Abstract

105. Zimran A, Altarescu G, Philips M, et al. Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood. 2010 Jun 10;115(23):4651-6.Full text  Abstract

106. Morris JL. Velaglucerase alfa for the management of type 1 Gaucher disease. Clin Ther. 2012 Feb;34(2):259-71. Abstract

107. Ben Turkia H, Gonzalez DE, Barton NW, et al. Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. Am J Hematol. 2013 Mar;88(3):179-84. Abstract

108. Hughes DA, Gonzalez DE, Lukina EA, et al. Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: long-term data from phase III clinical trials. Am J Hematol. 2015 Jul;90(7):584-91.Full text  Abstract

109. Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991 May 23;324(21):1464-70. Abstract

110. Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type I Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002 Aug 1;113(2):112-9. Abstract

111. Gabrowski GA, Kolodny EH, Weinreb NJ, et al. Gaucher disease: phenotypic and genetic variation. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular basis of inherited disease. 9th ed. New York, NY: McGraw-Hill; 2006.

112. Mistry PK, Lukina E, Ben Turkia H, et al. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA. 2015 Feb 17;313(7):695-706.Full text  Abstract

113. Cox TM, Aerts JM, Andria G, et al. The role of the iminosugar N-butyldeoxynorjirimycin (miglustat) in the management of type 1 (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis. 2003;26(6):513-26. Abstract

114. Cox T, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet. 2000 Apr 29;355(9214):1481-5. Abstract

115. Pastores GM, Giraldo P, Cherin P, et al. Goal-oriented therapy with miglustat in Gaucher disease. Curr Med Res Opin. 2009 Jan;25(1):23-37. Abstract

116. Poole RM. Eliglustat: first global approval. Drugs. 2014 Oct;74(15):1829-36. Abstract

117. Peters C, Steward CG, National Marrow Donor Program, et al. Hematopoietic cell transplantation for inherited metabolic disorders: an overview of outcomes and practice guidelines. Bone Marrow Transplant. 2003 Feb;31(4):229-39. Abstract

118. Vellodi A, Tylki-Szymanska A, Davies EH, et al. Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis. 2009 Oct;32(5):660-4. Abstract

119. Wanner C, Arad M, Baron R, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018 Jul;124(3):189-203. Abstract

120. Jain G, Warnock DG. Blood pressure, proteinuria and nephropathy in Fabry disease. Nephron Clin Pract. 2011;118(1):43-8. Abstract

121. Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage diseases. Heart. 2007 Apr;93(4):528-35. Abstract

122. Hoffmann B, Schwarz M, Mehta A, et al. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol. 2007 Dec;5(12):1447-53. Abstract

123. Germain DP, Avan P, Chassaing A, et al. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet. 2002 Oct 11;3:10.Full text  Abstract

124. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N Engl J Med. 2001 Jul 5;345(1):9-16.Full text  Abstract

125. Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001 Jun 6;285(21):2743-9.Full text  Abstract

126. Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart. 2008 Feb;94(2):153-8. Abstract

127. Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007 Jan 16;146(2):77-86. Abstract

128. Beck M, Ricci R, Widmer U, et al. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest. 2004 Dec;34(12):838-44. Abstract

129. Mehta A, Beck M, Elliott P, et al; Fabry Outcome Survey investigators. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet. 2009 Dec 12;374(9706):1986-96. Abstract

130. Germain DP, Arad M, Burlina A, et al. The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - a systematic literature review by a European panel of experts. Mol Genet Metab. 2019 Mar;126(3):224-35.Full text  Abstract

131. Sheng S, Wu L, Nalleballe K, et al. Fabry's disease and stroke: effectiveness of enzyme replacement therapy (ERT) in stroke prevention, a review with meta-analysis. J Clin Neurosci. 2019 Jul;65:83-6. Abstract

132. Spada M, Baron R, Elliott PM, et al. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - a systematic literature review by a European panel of experts. Mol Genet Metab. 2019 Mar;126(3):212-23.Full text  Abstract

133. El Dib R, Gomaa H, Carvalho RP, et al. Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev. 2016 Jul 25;(7):CD006663.Full text  Abstract

134. Germain DP, Fouilhoux A, Decramer S, et al. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet. 2019 Aug;96(2):107-17.Full text  Abstract

135. El Dib R, Gomaa H, Ortiz A, et al. Enzyme replacement therapy for Anderson-Fabry disease: a complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies. PLoS One. 2017 Mar 15;12(3):e0173358.Full text  Abstract

136. Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015;66:471-86. Abstract

137. Germain DP, Hughes DA, Nicholls K, et al. Treatment of Fabry's disease with the pharmacologic chaperone migalastat. N Engl J Med. 2016 Aug 11;375(6):545-55.Full text  Abstract

138. National Institute for Health and Care Excellence. Migalastat for treating Fabry disease. Feb 2017 [internet publication].Full text

139. Hughes DA, Nicholls K, Shankar SP, et al. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet. 2017 Apr;54(4):288-96. [Erratum in: J Med Genet. 2018.]Full text  Abstract

140. Schiffmann R, Bichet DG, Jovanovic A, et al. Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial. Orphanet J Rare Dis. 2018 Apr 27;13(1):68.Full text  Abstract

141. Shinhar SY, Zablocki RN, Madgy DN. Airway management in mucopolysaccharide disorders. Arch Otolaryngol. 2004 Feb;130(2):233-7. Abstract

142. Simmons MA, Bruce IA, Penney S, et al. Otorhinological manifestations of mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):589-95. Abstract

143. van der Linden MH, Kruyt MC, Sakkers RJ, et al. Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review. J Inherit Metab Dis. 2011 Jun;34(3):657-69.Full text  Abstract

144. Solanki GA, Alden TD, Burton BK, et al. A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. Mol Genet Metab. 2012 Sep;107(1-2):15-24.Full text  Abstract

145. Pastores GM, Meere PA. Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Curr Opin Rheumatol. 2005 Jan;17(1):70-8. Abstract

146. Boelens JJ. Trends in hematopoietic stem cell transplantation for inborn errors of metabolism. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):413-20. Abstract

147. Brunelli MJ, Atallah ÁN, da Silva EM. Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI. Cochrane Database Syst Rev. 2021 Sep 17;(9):CD009806.Full text  Abstract

148. Hendriksz CJ, Burton B, Fleming TR, et al.; STRIVE Investigators. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis. 2014 Nov;37(6):979-90.Full text  Abstract

149. Jameson E, Jones S, Remmington T. Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I. Cochrane Database Syst Rev. 2019 Jun 18;6(6):CD009354.Full text  Abstract

150. Wikman-Jorgensen PE, López Amorós A, Peris García J, et al. Enzyme replacement therapy for the treatment of Hunter disease: a systematic review with narrative synthesis and meta-analysis. Mol Genet Metab. 2020 Sep - Oct;131(1-2):206-10. Abstract

151. Gomes DF, Gallo LG, Leite BF, et al. Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review. J Inherit Metab Dis. 2019 Jan;42(1):66-76. Abstract

152. National Institute for Health and Care Excellence. Elosulfase alfa for treating mucopolysaccharidosis type 4A: highly specialised technologies guidance. Apr 2022 [internet publication].Full text

153. NHS; National Institute for Health Research (NIHR). NIHR Innovation Observatory evidence briefing. Vestronidase alfa (UX-003) for mucopolysaccharidosis type VII (MPS 7; Sly syndrome) NIHRIO (HSRIC) ID: 11463. Apr 2017 [internet publication].Full text

154. A study of UX003 recombinant human beta-glucuronidase (rhGUS) enzyme replacement therapy in subjects with mucopolysaccharidosis type 7, Sly syndrome (MPS 7). Jul 2020 [internet publication].Full text

155. Chen M, Zhang L, Quan S. Enzyme replacement therapy for infantile-onset Pompe disease. Cochrane Database Syst Rev. 2017 Nov 20;(11):CD011539.Full text  Abstract

156. Joanne M, Skye N, Tracy M. The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review. J Inherit Metab Dis. 2019 Jan;42(1):57-65.Full text  Abstract

157. Kishnani PS, Corzo D, Leslie ND, et al. Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res. 2009 Sep;66(3):329-35.Full text  Abstract

158. Sarah B, Giovanna B, Emanuela K, et al. Clinical efficacy of the enzyme replacement therapy in patients with late-onset Pompe disease: a systematic review and a meta-analysis. J Neurol. 2021 Apr 13 [Epub ahead of print].Full text  Abstract

159. van der Ploeg AT, Kruijshaar ME, Toscano A, et al. European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. Eur J Neurol. 2017 Jun;24(6):768-e31. Abstract

160. Pineda M, Walterfang M, Patterson MC. Miglustat in Niemann-Pick disease type C patients: a review. Orphanet J Rare Dis. 2018 Aug 15;13(1):140.Full text  Abstract

161. National Institute for Health and Care Excellence. Eliglustat for treating type 1 Gaucher disease. Jun 2017 [internet publication].Full text

162. Linthorst GE, Germain DP, Hollak CE, et al; European Medicines Agency. Expert opinion on temporary treatment recommendations for Fabry disease during the shortage of enzyme replacement therapy (ERT). Mol Genet Metab. 2011 Jan;102(1):99-102. Abstract

163. PROPEL study - a study comparing ATB200/AT2221 with alglucosidase/placebo in adult subjects with LOPD. Feb 2021 [internet publication].Full text

164. National Institute for Health and Care Excellence. Cerliponase alfa for treating neuronal ceroid lipofuscinosis type 2. Nov 2019 [internet publication].Full text

165. MT2018-18: sleeping beauty transposon-engineered plasmablasts for Hurler syndrome post allo HSCT. Jul 2021 [internet publication].Full text

166. An open-label, phase 1/2 trial of gene therapy 4D-310 in adult males with Fabry disease. Sep 2021 [internet publication].Full text

167. McBride KL, Berry SA, Braverman N, et al. Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 Nov;22(11):1735-42. Abstract

168. Cupler EJ, Berger KI, Leshner RT, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012 Mar;45(3):319-33.Full text  Abstract

169. Geberhiwot T, Moro A, Dardis A, et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018 Apr 6;13(1):50.Full text  Abstract

170. Adang LA, Sherbini O, Ball L, et al. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab. 2017 Sep;122(1-2):18-32.Full text  Abstract

171. Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007 Aug;120(2):405-18. Abstract

172. de Ru MH, Boelens JJ, Das AM, et al. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis. 2011 Aug 10;6:55.Full text  Abstract

173. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004 Oct;41(4 suppl 5):4-14. Abstract

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