TAKAYANAGI Masaki | Division of Metabolism, Chiba Children's Hospital

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著作論文

A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid leyels
Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency
Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population
Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency
An Ile/Val polymorphism at codon 1464 of the ATP7A gene
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease
Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement
Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease
Expression analysis of two mutant human ornithine transcarbamylases in COS-7 cells
Children's toxicology from bench to bed - Liver Injury (3) : Oxidative stress and anti-oxidant systems in liver of patients with wilson disease
Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan

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