Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood-Reference-Cited by-同舟云学术

Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood

Published:2014 Issue: Volume: Page:
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Lidove Olivier,Sedel Frédéric,Charlotte Frédéric,Froissart Roseline,Vanier Marie T.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2014_306

Reference17 articles.

1. Dewhurst N, Besley GT, Finlayson ND, Parker AC (1979) Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann–Pick disease. J Clin Pathol 32:1121–1127

2. Hollak CE, de Sonnaville ES, Cassiman D et al (2012) Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab 107:526–533

3. Iaselli F, Rea G, Cappabianca S, Fabozzi G et al (2011) Adult-onset pulmonary involvement in Niemann–Pick disease type B. Monaldi Arch Chest Dis 75:235–240

4. Labrune P, Bedossa P, Huguet P et al (1991) Fatal liver failure in two children with Niemann–Pick disease type B. J Pediatr Gastroenterol Nutr 13:104–109

5. McGovern MM, Aron A, Brodie SE et al (2006) Natural history of type A Niemann–Pick disease: possible endpoints for therapeutic trials. Neurology 66:228–232

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