Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report-Reference-Cited by-同舟云学术

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report

Published:2019-09 Issue: Volume:20 Page:100479
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Soll Dominik,Spira Dominik,Hollstein Tim,Haberbosch Linus,Demuth Ilja,Steinhagen-Thiessen Elisabeth,Bobbert Thomas,Spranger Joachim,Kassner Ursula

Funder

German Research Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference13 articles.

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3. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction;Reiner;Atherosclerosis,2014

4. The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: a rare condition that mimics NAFLD;Carter;J. Hepatol.,2018

5. Cholesteryl ester storage disease: fatal outcome without causal therapy in a female patient with the preventable sequelae of progressive liver disease after many years of mild symptoms;Canbay;Am. J. Case Rep.,2018

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1. A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant;Archives of Iranian Medicine;2023-02-01

2. Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program;Frontiers in Genetics;2022-07-12

3. The Association between Single Nucleotide Polymorphisms, including miR-499a Genetic Variants, and Dyslipidemia in Subjects Treated with Pharmacological or Phytochemical Lipid-Lowering Agents;International Journal of Molecular Sciences;2022-05-17

4. A rare cause of hepatomegaly and dyslipidemia: lysosomal acid lipase deficiency;The Turkish Journal of Pediatrics;2020