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Case Report of Gastrointestinal Bleeding in an Adult with Chronic Visceral Acid Sphingomyelinase Deficiency

INTRODUCTION: Acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick Type A and Type B disease) is a rare, inherited metabolic disorder. Liver-related issues, including cirrhosis and variceal haemorrhage, are a leading cause of early mortality in individuals with chronic forms of ASMD. D...

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Detalles Bibliográficos
Autores principales: Cassiman, David, Libbrecht, Louis, Meersseman, Wouter, Wilmer, Alexander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6475549/
https://www.ncbi.nlm.nih.gov/pubmed/31080679
http://dx.doi.org/10.1155/2019/9613457