Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly-Reference-Cited by-同舟云学术

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Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly

Published:2021-01 Issue:1 Volume:31 Page:52-55
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Avila-Smirnow Daniela,Durán-Saavedra Gloria,Ovalle-Besa Pilar,Gejman-Enríquez Roger

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference23 articles.

1. Neutral lipid storage disease with myopathy in China: a large multicentric cohort study;Zhang;Orphanet J Rare Dis,2019

2. Neutral lipid storage diseases: clinical/genetic features and natural history in a large cohort of Italian patients;Pennisi;Orphanet J Rare Dis,2017

3. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy;Fischer;Nat Genet,2007

4. PNPLA2 mutation: a paediatric case with early onset but indolent course;Perrin;Neuromuscul Disord,2013

5. Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy;Zheng;BMC Med Genet,2018

Cited by 3 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. HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy;Neuromuscular Disorders;2023-09

2. Expression and function of patatin-like phospholipase domain-containing 2 in cleft palate induced by retinoic acid;British Journal of Oral and Maxillofacial Surgery;2023-04

3. Hereditary myopathies associated with hematological abnormalities;Muscle & Nerve;2022-01-05

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