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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

Brain & development (Tokyo. 1979), 2019-08, Vol.41 (7), p.638-642

2019

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Ghrelin Concentration in Cord and Neonatal Blood: Relation to Fetal Growth and Energy Balance

The journal of clinical endocrinology and metabolism, 2003-11, Vol.88 (11), p.5473-5477

2003

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Tyrosinemia Type I in Japan: A Report of Five Cases

Advances in experimental medicine and biology, 2017, Vol.959, p.133-138

2017

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Presumed hypoplastic intrahepatic portal system due to patent ductus venosus: Importance of direct occlusion test of ductus venosus under open laparotomy

Pediatrics international, 2004-08, Vol.46 (4), p.484-486

2004

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Dynamic changes in serum leptin concentrations during the fetal and neonatal periods

Pediatric research, 1999, Vol.45 (1), p.71-75

1999

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Comparison of GAD and ICA512/IA-2 antibodies at and after the onset of IDDM

Diabetes care, 1998-01, Vol.21 (1), p.49-52

1998

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Serum Leptin Concentration in Cord Blood: Relationship to Birth Weight and Gender

The journal of clinical endocrinology and metabolism, 1997-05, Vol.82 (5), p.1642-1642

1997

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Effects of long-term zinc treatment in Japanese patients with Wilson disease: efficacy, stability, and copper metabolism

Translational research : the journal of laboratory and clinical medicine, 2010-12, Vol.156 (6), p.350-357

2010

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Adrenocorticotropic hormone therapy for infantile spasms alters pyruvate metabolism in the central nervous system

Brain & development (Tokyo. 1979), 1998-08, Vol.20 (5), p.312-318

1998

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Case of methylmalonic acidemia presenting clinically Leigh encephalopathy

No to hattatsu, 2004-07, Vol.36 (4), p.324

2004

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Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

Human mutation, 2000-01, Vol.15 (3), p.209-219

2000

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Management of acute metabolic decompensation in maple syrup urine disease: A multi-center study

Pediatrics international, 1999-04, Vol.41 (2), p.132-137

1999

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Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period

The journal of medical investigation, 1999-08, Vol.46 (3-4), p.186-191

1999

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Complex II deficiency due to Fp gene mutation

Nihon rinshō, 2002-04, Vol.60 Suppl 4, p.444

Ito, Michinori

2002

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Complex I deficiency due to NDUFS8 gene mutation

Nihon rinshō, 2002-04, Vol.60 Suppl 4, p.441

Ito, Michinori

2002

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Mitochondrial pyruvate carboxylase

Nihon rinshō, 2002-04, Vol.60 Suppl 4, p.122

Ito, Michinori

2002

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Mitochondrial Pyruvate dehydrogenase

Nihon rinshō, 2002-04, Vol.60 Suppl 4, p.118

Ito, Michinori

2002

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Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region

Biochimica et biophysica acta, 2002-10, Vol.1588 (1), p.79-84

2002

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Association between vitamin D receptor genotype and age of onset in juvenile Japanese patients with type 1 diabetes

Diabetes care, 2002-07, Vol.25 (7), p.1244-1244

2002

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Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period

The journal of medical investigation, 1997-08, Vol.44 (1-2), p.95-97

1997

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Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency

Journal of the neurological sciences, 2002-09, Vol.201 (1), p.33-37

2002

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Sisters with α-mannosidosis and systemic lupus erythematosus

European journal of pediatrics, 2004-04, Vol.163 (4-5), p.192-195

2004

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Collection and Transplantation of Peripheral Blood Stem Cells in Very Small Children Weighing 20 kg or Less

Blood, 1995-07, Vol.86 (1), p.372-380

1995

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Authors’ Response: N-Octanoylated Ghrelin Levels in Cord and Neonatal Blood

The journal of clinical endocrinology and metabolism, 2004-09, Vol.89 (9), p.4768-4768

2004

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N-Octanoylated Ghrelin Levels in Cord and Neonatal Blood

The journal of clinical endocrinology and metabolism, 2004-09, Vol.89 (9), p.4768-4768

Ferrero, Simone

2004

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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

Ghrelin Concentration in Cord and Neonatal Blood: Relation to Fetal Growth and Energy Balance

Tyrosinemia Type I in Japan: A Report of Five Cases

Presumed hypoplastic intrahepatic portal system due to patent ductus venosus: Importance of direct occlusion test of ductus venosus under open laparotomy

Dynamic changes in serum leptin concentrations during the fetal and neonatal periods

Comparison of GAD and ICA512/IA-2 antibodies at and after the onset of IDDM

Serum Leptin Concentration in Cord Blood: Relationship to Birth Weight and Gender

Effects of long-term zinc treatment in Japanese patients with Wilson disease: efficacy, stability, and copper metabolism

Adrenocorticotropic hormone therapy for infantile spasms alters pyruvate metabolism in the central nervous system

Case of methylmalonic acidemia presenting clinically Leigh encephalopathy

Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

Management of acute metabolic decompensation in maple syrup urine disease: A multi-center study

Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period

Complex II deficiency due to Fp gene mutation

Complex I deficiency due to NDUFS8 gene mutation

Mitochondrial pyruvate carboxylase

Mitochondrial Pyruvate dehydrogenase

Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region

Association between vitamin D receptor genotype and age of onset in juvenile Japanese patients with type 1 diabetes

Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period

Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency

Sisters with α-mannosidosis and systemic lupus erythematosus

Collection and Transplantation of Peripheral Blood Stem Cells in Very Small Children Weighing 20 kg or Less

Authors’ Response: N-Octanoylated Ghrelin Levels in Cord and Neonatal Blood

N-Octanoylated Ghrelin Levels in Cord and Neonatal Blood

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