Doenças do armazenamento lisossomal hereditárias comuns

Referências

Principais artigos

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  Resumo

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

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  Resumo

Artigos de referência

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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  Resumo

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

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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. Resumo

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  Resumo

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. Resumo

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  Resumo

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. Resumo

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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.Texto completo  Resumo

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

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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. Resumo

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

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. Resumo

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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. Resumo

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

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113. 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. Resumo

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

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

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125. 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. Resumo

126. 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  Resumo

127. 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  Resumo

128. 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  Resumo

129. 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  Resumo

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

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