Common hereditary lysosomal storage diseases

References

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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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