Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations-Reference-Cited by-同舟云学术

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Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

Published:1995-01-01 Issue:1 Volume:4 Page:19-29
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Verderio E.,Cavadini P.,Montermini L.,Wang H.,Lamantea E.,Finocchiaro G.,DiDonato S.,Gellera C.,Taroni F.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/4/1/19/2736530/4-1-19.pdf

Cited by 89 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. Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target?;International Journal of Neonatal Screening;2021-08-13

2. Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F;International Journal of Molecular Sciences;2021-05-02

3. Carnitine palmitoyltransferase II deficiency with a focus on newborn screening;Journal of Human Genetics;2018-12-04

4. Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II;Neurology Genetics;2016-02-25

5. Abbreviated Half-Lives and Impaired Fuel Utilization in Carnitine Palmitoyltransferase II Variant Fibroblasts;PLOS ONE;2015-03-17

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