Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.

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Title: Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.
Authors: Mistry PK; Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA., Cassiman D; Department of Gastroenterology-Hepatology, University Hospitals Leuven, Leuven, Belgium., Jones SA; Willink Biochemical Genetics Unit, St. Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, UK., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Lukina E; Department of Orphan Diseases, National Medical Research Center for Hematology, Moscow, Russian Federation., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Wasserstein MP; Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore and Albert Einstein College of Medicine, Bronx, New York, USA., Thurberg BL; President and Founder, Beth Thurberg Orphan Science Consulting, LLC, Newton, Massachusetts, USA., Foster MC; Global Medical Affairs: Rare Diseases, Sanofi, Cambridge, Massachusetts, USA., Patel RM; Global Scientific Communications and Publications: Rare Diseases, Sanofi, Cambridge, Massachusetts, USA., Underhill LH; Global Scientific Communications and Publications: Rare Diseases, Sanofi, Cambridge, Massachusetts, USA., Peterschmitt MJ; Research and Development, Sanofi, Cambridge, Massachusetts, USA.
Source: Hepatology communications [Hepatol Commun] 2025 Jan 07; Vol. 9 (1). Date of Electronic Publication: 2025 Jan 07 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101695860 Publication Model: eCollection Cited Medium: Internet ISSN: 2471-254X (Electronic) Linking ISSN: 2471254X NLM ISO Abbreviation: Hepatol Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2471-254X
DOI:10.1097/HC9.0000000000000621