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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
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Mistry+PK%22">Mistry PK</searchLink>; Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Cassiman+D%22">Cassiman D</searchLink>; Department of Gastroenterology-Hepatology, University Hospitals Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Jones+SA%22">Jones SA</searchLink>; Willink Biochemical Genetics Unit, St. Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Lachmann+R%22">Lachmann R</searchLink>; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.<br /><searchLink fieldCode="AU" term="%22Lukina+E%22">Lukina E</searchLink>; Department of Orphan Diseases, National Medical Research Center for Hematology, Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Prada+CE%22">Prada CE</searchLink>; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Wasserstein+MP%22">Wasserstein MP</searchLink>; Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore and Albert Einstein College of Medicine, Bronx, New York, USA.<br /><searchLink fieldCode="AU" term="%22Thurberg+BL%22">Thurberg BL</searchLink>; President and Founder, Beth Thurberg Orphan Science Consulting, LLC, Newton, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Foster+MC%22">Foster MC</searchLink>; Global Medical Affairs: Rare Diseases, Sanofi, Cambridge, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Patel+RM%22">Patel RM</searchLink>; Global Scientific Communications and Publications: Rare Diseases, Sanofi, Cambridge, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Underhill+LH%22">Underhill LH</searchLink>; Global Scientific Communications and Publications: Rare Diseases, Sanofi, Cambridge, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Peterschmitt+MJ%22">Peterschmitt MJ</searchLink>; Research and Development, Sanofi, Cambridge, Massachusetts, USA.
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  Data: <searchLink fieldCode="JN" term="%22101695860%22">Hepatology communications</searchLink> [Hepatol Commun] 2025 Jan 07; Vol. 9 (1). <i>Date of Electronic Publication: </i>2025 Jan 07 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wolters+Kluwer+Health%2C+Inc%22">Wolters Kluwer Health, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101695860 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2471-254X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222471254X%22">2471254X </searchLink><i>NLM ISO Abbreviation: </i>Hepatol Commun <i>Subsets: </i>MEDLINE
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        Value: 10.1097/HC9.0000000000000621
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              Text: 2025 Jan 07
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