Search Results - "ITO, Michinori"
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Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report
Published in Brain & development (Tokyo. 1979) (01-08-2019)“…Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia type II, is classically caused by a congenital defect in electron transfer…”
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Ghrelin Concentration in Cord and Neonatal Blood: Relation to Fetal Growth and Energy Balance
Published in The journal of clinical endocrinology and metabolism (01-11-2003)“…To investigate the relationship between ghrelin and both fetal and neonatal growth parameters and energy balance, we measured plasma ghrelin concentrations in…”
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Dynamic changes in serum leptin concentrations during the fetal and neonatal periods
Published in Pediatric research (1999)“…We investigated the dynamics of the leptin concentration throughout the perinatal period. Serum leptin concentrations in venous cord blood at different…”
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Complex II deficiency due to Fp gene mutation
Published in Nihon rinshō (01-04-2002)Get more information
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Complex I deficiency due to NDUFS8 gene mutation
Published in Nihon rinshō (01-04-2002)Get more information
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Mitochondrial pyruvate carboxylase
Published in Nihon rinshō (01-04-2002)Get more information
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Mitochondrial Pyruvate dehydrogenase
Published in Nihon rinshō (01-04-2002)Get more information
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Comparison of GAD and ICA512/IA-2 antibodies at and after the onset of IDDM
Published in Diabetes care (01-01-1998)“…Comparison of GAD and ICA512/IA-2 antibodies at and after the onset of IDDM. I Yokota , J Matsuda , E Naito , M Ito , K Shima and Y Kuroda Department of…”
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Tyrosinemia Type I in Japan: A Report of Five Cases
Published in Advances in experimental medicine and biology (2017)“…Tyrosinemia type I in Japan was reported for the first time in 1957 by Sakai et al. (Jikei Med J 2:1-10, 1957) and Kitagawa et al. (Proc Jpn Acad Ser B…”
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Adrenocorticotropic hormone therapy for infantile spasms alters pyruvate metabolism in the central nervous system
Published in Brain & development (Tokyo. 1979) (01-08-1998)“…To clarify the mechanism of action of adrenocorticotropic hormone (ACTH) in treating infantile spasms, we evaluated the effects of ACTH on the metabolism of…”
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Management of acute metabolic decompensation in maple syrup urine disease: A multi-center study
Published in Pediatrics international (01-04-1999)“…Background: Therapeutic modalities in acute metabolic decompensation in maple syrup urine disease (MSUD) are variable, and outcomes of each therapeutic measure…”
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Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period
Published in The journal of medical investigation (01-08-1999)“…Two mutations in the cystathionine beta-synthase (CBS) gene were found in two Japanese siblings with pyridoxine non-responsive homocystinuria who had different…”
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Case of methylmalonic acidemia presenting clinically Leigh encephalopathy
Published in No to hattatsu (01-07-2004)“…A 1-year-old boy with methylmalonic acidemia had symmetrical lesions of the bilateral basal ganglia, which suggested Leigh encephalopathy. The findings on…”
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Epilepsy due to inborn errors of metabolism
Published in Ryoikibetsu shokogun shirizu (2002)Get more information
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Serum Leptin Concentration in Cord Blood: Relationship to Birth Weight and Gender
Published in The journal of clinical endocrinology and metabolism (01-05-1997)“…To investigate the effect of leptin on fetal growth, serum leptin concentrations in venous cord blood were measured in 82 newborns (male= 43, female = 39,…”
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Effects of long-term zinc treatment in Japanese patients with Wilson disease: efficacy, stability, and copper metabolism
Published in Translational research : the journal of laboratory and clinical medicine (01-12-2010)“…Wilson disease is an autosomal recessive disorder with copper metabolism. In Japan, the standard treatment is the administration of copper chelating agents,…”
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Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period
Published in The journal of medical investigation (01-08-1997)“…We present two siblings with vitamin B6-nonresponsive homocystinuria due to a deficiency of cystathionine beta-synthase who had different levels of methionine…”
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Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
Published in Human mutation (01-01-2000)“…Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis, a frequent manifestation of metabolic disease in…”
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Effect of sodium dichloroacetate on human pyruvate metabolism
Published in Brain & development (Tokyo. 1979) (1989)“…Sodium dichloroacetate (DCA) was administered orally at doses of 12.5 to 50 mg/kg body weight twice or three times per day to a patient with mitochondrial…”
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