Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

Kaoru Wataya, Jun Akanuma, Patrizia Cavadini, Yoko Aoki, Shigeo Kure, Federica Invernizzi, Ichiro Yoshida, Jun Ichi Kira, Franco Taroni, Yoichi Matsubara, Kuniaki Narisawa

Research output: Contribution to journal › Article › peer-review

49 Citations (Scopus)

Fingerprint

Dive into the research topics of 'Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes'. Together they form a unique fingerprint.

Biochemistry, Genetics and Molecular Biology

Pharmacology, Toxicology and Pharmaceutical Science