Childhood/adult-onset lysosomal acid lipase deficiency: A serious metabolic and vascular phenotype beyond liver disease—four new pediatric cases-Reference-Cited by-同舟云学术

Childhood/adult-onset lysosomal acid lipase deficiency: A serious metabolic and vascular phenotype beyond liver disease—four new pediatric cases

Published:2017-01 Issue:1 Volume:11 Page:167-177.e3
ISSN:1933-2874
Container-title:Journal of Clinical Lipidology
language:en
Short-container-title:Journal of Clinical Lipidology

Author:

Poinsot Pierre,Collardeau Frachon Sophie,Restier Lioara,Sérusclat André,Di Filippo Mathilde,Charrière Sybil,Moulin Philippe,Lachaux Alain,Peretti Noel

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference42 articles.

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3. Lysosomal Acid Lipase Deficiencies: The Wolman Disease/Cholesteryl Ester Storage Disease Spectrum;Grabowski,2012

4. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants;Jones;Genet Med,2016

5. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease;Bernstein;J Hepatol,2013

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1. Acute Hepatitis;Principles and Practice of Pediatric Infectious Diseases;2023

2. Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency;Expert Opinion on Orphan Drugs;2022-10-12

3. Lysosomal acid lipase deficiency in pediatric patients: a scoping review;Jornal de Pediatria;2022-01

4. LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters;Atherosclerosis;2020-03

5. Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency;Orphanet Journal of Rare Diseases;2020-02-24