Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum-Reference-Cited by-同舟云学术

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum

Published:2018 Issue: Volume:2018 Page:1-5
ISSN:2090-6803
Container-title:Case Reports in Pediatrics
language:en
Short-container-title:Case Reports in Pediatrics

Author:

Curiati Marco Antonio¹^ORCID,Kyosen Sandra Obikawa¹,Pereira Vanessa Gonçalves²,Patrício Francy Reis da Silva³,Martins Ana Maria¹

Affiliation:

1. Reference Center for Inborn Errors of Metabolism (CREIM), Department of Pediatrics, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil

2. Laboratory for Inborn Errors of Metabolism, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil

3. Department of Pathology, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil

Abstract

Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.

Funder

Alexion Pharmaceuticals

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/cripe/2018/4375434.pdf

Reference19 articles.

1. GENERALIZED XANTHOMATOSIS WITH CALCIFIED ADRENALS

2. Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency

3. Newly Recognized Disorders of Cholesterol Metabolism.

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. The Emerging Battle: Lysosomal Acid Lipase Deficiency vs Familial Hypercholesterolemia in Children;ACG Case Reports Journal;2021-01

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

4. Immunometabolic function of cholesterol in cardiovascular disease and beyond;Cardiovascular Research;2019-05-16

5. Lysosomal Acid Lipase: From Cellular Lipid Handler to Immunometabolic Target;Trends in Pharmacological Sciences;2019-02