Enfermedades hereditarias frecuentes de depósito lisosomal

Referencias

Artículos principales

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.Texto completo  Resumen

Germain DP. Fabry disease. Orphanet J Rare Dis. 2010 Nov 22;5:30.Texto completo  Resumen

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.Texto completo  Resumen

Artículos de referencia

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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. Resumen

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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.Texto completo  Resumen

30. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010 Nov 22;5:30.Texto completo  Resumen

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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. Resumen

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

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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. Resumen

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.Texto completo  Resumen

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. Resumen

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.Texto completo  Resumen

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. Resumen

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

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.Texto completo  Resumen

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. Resumen

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

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. Resumen

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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.Texto completo  Resumen

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.Texto completo  Resumen

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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.Texto completo  Resumen

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. Resumen

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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.Texto completo  Resumen

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. Resumen

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.Texto completo  Resumen

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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. Resumen

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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.Texto completo  Resumen

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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.Texto completo  Resumen

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

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. Resumen

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

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. Resumen

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. Resumen

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. Resumen

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

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.Texto completo  Resumen

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. Resumen

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.Texto completo  Resumen

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.Texto completo  Resumen

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

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

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.Texto completo  Resumen

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.Texto completo  Resumen

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. Resumen

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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. Resumen

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. Resumen

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

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.Texto completo  Resumen

93. Invitae. Detect lysosomal storage diseases [internet publication].Texto completo

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. Resumen

95. American College of Obstetricians and Gynecologists. Committee opinion no. 691: Carrier screening for genetic conditions. Mar 2017 [internet publication].Texto completo

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

97. 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. Resumen

98. 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.Texto completo  Resumen

99. 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.Texto completo  Resumen

100. 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.Texto completo  Resumen

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

102. 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. Resumen

103. 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.Texto completo  Resumen

104. 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. Resumen

105. 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. Resumen

106. 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.

107. 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.Texto completo  Resumen

108. 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. Resumen

109. 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. Resumen

110. 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. Resumen

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

112. 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. Resumen

113. 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. Resumen

114. 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. Resumen

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

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

117. 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. Resumen

118. 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.Texto completo  Resumen

119. 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.Texto completo  Resumen

120. 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.Texto completo  Resumen

121. 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. Resumen

122. 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. Resumen

123. 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. Resumen

124. 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. Resumen

125. 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.Texto completo  Resumen

126. 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. Resumen

127. 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.Texto completo  Resumen

128. 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.Texto completo  Resumen

129. 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.Texto completo  Resumen

130. 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.Texto completo  Resumen

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

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