Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency-Reference-Cited by-同舟云学术

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Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Published:2003-05 Issue:5 Volume:21 Page:493-501
ISSN:1059-7794
Container-title:Human Mutation
language:
Short-container-title:Hum. Mutat.

Author:

Thuillier Laure,Rostane Hidayeth,Droin Veronique,Demaugre France,Brivet Michèle,Kadhom Noman,Prip-Buus Carina,Gobin Stéphanie,Saudubray Jean-Marie,Bonnefont Jean-Paul

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 91 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. Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome;Italian Journal of Pediatrics;2024-04-14

2. Anti-obesity effect of Lactobacillus fermented Paeonia japonica, Cnidium officinale, and Angelica gigas nakai;Journal of People, Plants, and Environment;2024-02-28

3. Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil;Arquivos de Neuro-Psiquiatria;2024-02

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

5. Adult-onset carnitine palmitoyl transferase II (CPT II) deficiency presenting with rhabdomyolysis and acute kidney injury;CEN Case Reports;2023-06-21

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