Yoshino Makoto | Department Of Advanced Materials Science & Engineering Faculty Of Engineering Yamaguchi Universi

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概要

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著作論文

Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients
遅発型オルニチントランスカルバミラーゼ欠損症男性患者における予後因子と血漿アミノ酸プロフィールの特徴
Synthesis and Gas Permeation Properties of Star-like Poly(ethylene oxide)s Using Hyperbranched Polyimide as Central Core
Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency
Pyruvate dehydrogenase E1α subunit deficiency in a female patient : evidence of antenatal origin of brain damage and possible etiology of infantile spasms
Investigation of the IVS5 +5G → A splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome
日本における新生児スクリーニング使用済み濾紙血の目的外使用と長期保存
Management of acute metabolic decompensation in maple syrup urine disease : A multi-center study
A long-term survival case of arginase deficiency with severe multicystic white matter and compound mutations
Pyruvate dehydrogenase E1 alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations
Mucolipidosis II and III alpha/beta : mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder
DEVIL'S DISEASE IN AN UNUSUALLY YOUNG BOY:THE INCIDENCE, CONSIDERATION ON ETIOLOGY AND THERAPEUTIC TRIAL WITH CORTICOSTEROID
REYE SYNDROME: PATHOGENESIS OF ENCEPHALOPATHY IN THE INITIAL STAGE NOT RELATED TO LIVER DAMAGE
Hyperoxaluria type I: Therapeutic effects of pyridoxine hydrochloride and inheritance patterns of the disease in a family.
Arginase activity in peripheral erythrocytes in developing individuals.
REYE'S SYNDROME: SERUM GLUTAMIC OXALACETIC TRANSAMINASE ISOZYMES AND ORNITHINE TRANSCARBAMYLASE ACTIVITY
A case of hemolytic anemia in Wilson's disease no evidence for abnormal erythrocyte enzyme activities.

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