Repeated and progressive rhabdomyolysis due to a novel carnitine palmitoyltransferase II gene variant in an adult male-Reference-Cited by-同舟云学术

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Repeated and progressive rhabdomyolysis due to a novel carnitine palmitoyltransferase II gene variant in an adult male

Published:2019-11 Issue:48 Volume:98 Page:e18143
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Shao Lina,Liu Chunya,Xu Liyuan,Yu Rizhen,Li Yiwen,Chen Maosheng,He Qiang

Funder

Medical and Health Technology Program of Zhejiang Province

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference8 articles.

1. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects;Bonnefont;Mol Aspects Med,2004

2. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients;Joshi;J Neurol Sci,2014

3. Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency;Minkler;Clin Chim Acta,2005

4. Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency;Lehmann;J Neurol Sci,2014

5. Muscle carnitine palmitoyltransferase II deficiency: a review of enzymatic controversy and clinical features;Lehmann;Int J Mol Sci,2017

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. Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form;Journal of Pediatric Endocrinology and Metabolism;2023-11-07

2. Successful management of rhabdomyolysis with acute infection resulting from chronic sacrococcygeal pressure ulcers in a paraplegic patient: a case report;Journal of International Medical Research;2021-09

3. Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report;BMC Neurology;2021-01-29

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