Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF-Reference-Cited by-同舟云学术

Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF

Published:2005-03 Issue:3 Volume:45 Page:596-602
ISSN:0272-6386
Container-title:American Journal of Kidney Diseases
language:en
Short-container-title:American Journal of Kidney Diseases

Author:

Kaneoka Hidetoshi,Uesugi Noriko,Moriguchi Ayaka,Hirose Shinichi,Takayanagi Masaki,Yamaguchi Seiji,Shigematsu Yosuke,Yasuno Tetsuhiko,Sasatomi Yoshie,Saito Takao

Publisher

Elsevier BV

Subject

Nephrology

Reference25 articles.

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2. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency;Thuillier;Hum Mutat,2003

3. Carnitine palmitoyltransferase II deficiency;Sigauke;Lab Invest,2003

4. Selective screening for fatty acid oxidation disorders by tandem mass spectrometry;Shigematsu;J Chromatogr B Analyt Technol Biomed Life Sci,2003

5. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death;Demaugre;J Clin Invest,1991

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3. Extreme Elevation of Creatine Kinase in a Young Male Patient With Recurrent Rhabdomyolysis;Cureus;2022-05-07

4. Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach;Molecules;2020-04-13

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