Kanazawa Masaki | Department Of Pediatrics Chiba University Graduate School Of Medicine

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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
Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency
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
Excited-state Structure of a Platinum Complex by X-ray Analysis
Expression analysis of two mutant human ornithine transcarbamylases in COS-7 cells

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