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A key genetic factor for fucosyllactose utilization affects infant gut microbiota development

Nature communications, 2016-06, Vol.7 (1), p.11939-11939, Article 11939

2016

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Effects of Zinc Acetate on Serum Zinc Concentrations in Chronic Liver Diseases: a Multicenter, Double-Blind, Randomized, Placebo-Controlled Trial and a Dose Adjustment Trial

Biological trace element research, 2020-05, Vol.195 (1), p.71-81

2020

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Longitudinal Glycaemic Profiles during Remission in 6q24-Related Transient Neonatal Diabetes Mellitus

Hormone research in paediatrics, 2021, Vol.94 (5-6), p.229-234

2021

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Serum biotin in Japanese children: Enzyme-linked immunosorbent assay measurement

Pediatrics international, 2016-09, Vol.58 (9), p.872-876

2016

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Combined linkage analysis and exome sequencing identifies novel genes for familial goiter

Journal of human genetics, 2013-06, Vol.58 (6), p.366-377

2013

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Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development

Cytogenetic and genome research, 2019-01, Vol.158 (3), p.115-120

2019

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Low serum biotin in Japanese children fed with hydrolysate formula

Pediatrics international, 2016-09, Vol.58 (9), p.867-871

2016

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Lactate and Pyruvate Levels in Blood and Cerebrospinal Fluid in Patients with Menkes Disease

The Journal of pediatrics, 2014-04, Vol.164 (4), p.890-894

2014

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Sexual precocity in a girl with early-onset Graves’ disease

Clinical Pediatric Endocrinology, 2018, Vol.27(3), pp.165-169

2018

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Sexual precocity in a girl with early-onset Graves' disease

Clinical Pediatric Endocrinology, 2018-07, Vol.27 (3), p.165-169

2018

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Interaction of PICK1 with C-Terminus of Growth Hormone–Releasing Hormone Receptor (GHRHR) Modulates Trafficking and Signal Transduction of Human GHRHR

Journal of Pharmacological Sciences, 2013/07/20, Vol.122(3), pp.193-204

2013

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Effect of copper and disulfiram combination therapy on the macular mouse, a model of Menkes disease

Journal of trace elements in medicine and biology, 2012-06, Vol.26 (2-3), p.105-108

2012

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Compound Heterozygous Mutations in the Cholesterol Side-Chain Cleavage Enzyme Gene (CYP11A) Cause Congenital Adrenal Insufficiency in Humans

The journal of clinical endocrinology and metabolism, 2002-08, Vol.87 (8), p.3808-3813

2002

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First Japanese case of Zellweger syndrome with a mutation in PEX14

Pediatrics international, 2015-12, Vol.57 (6), p.1189-1192

2015

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Kallmann Syndrome Phenotype in a Female Patient with CHARGE Syndrome and CHD7 Mutation

Endocrine Journal, 2006, Vol.53(6), pp.741-743

2006

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Ultrasound Appearance of Thyroid Tissue in Hypothyroid Infants

The Journal of pediatrics, 2008-07, Vol.153 (1), p.101-104

2008

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Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome

Journal of trace elements in medicine and biology, 2012-06, Vol.26 (2-3), p.102-104

2012

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Hypospadias in a Male Patient with 21-hydroxylase Deficiency

Endocrine Journal, 2008, Vol.55(6), pp.1051-1054

2008

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Hypospadias in a Male Patient with 21-hydroxylase Deficiency

ENDOCRINE JOURNAL, 2008, Vol.55 (6), p.1051-1054

2008

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Refractory autoimmune hemolytic anemia in a patient with chromosome 22q11.2 deletion syndrome

Pediatrics international, 2004-10, Vol.46 (5), p.612-614

2004

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Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes

Diabetic medicine, 2020-12, Vol.37 (12), p.2131-2135

2020

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Hypophosphatemia in juvenile patients with systemic lupus erythematosus

Pediatrics international, 2003-02, Vol.45 (1), p.23-30

2003

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Novel CYP17A1 mutation in a Japanese patient with combined 17 α -hydroxylase/17,20-lyase deficiency

Metabolism, clinical and experimental, 2010-02, Vol.59 (2), p.275-278

2010

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Kallmann Syndrome Phenotype in a Female Patient with CHARGE Syndrome and CHD7 Mutation

ENDOCRINE JOURNAL, 2006, Vol.53 (6), p.741-743

2006

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Efficacy and Safety of Pitavastatin in Japanese Male Children with Familial Hypercholesterolemia

Journal of Atherosclerosis and Thrombosis, 2016/01/06, Vol.23(1), pp.48-55

2016

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A key genetic factor for fucosyllactose utilization affects infant gut microbiota development

Effects of Zinc Acetate on Serum Zinc Concentrations in Chronic Liver Diseases: a Multicenter, Double-Blind, Randomized, Placebo-Controlled Trial and a Dose Adjustment Trial

Longitudinal Glycaemic Profiles during Remission in 6q24-Related Transient Neonatal Diabetes Mellitus

Serum biotin in Japanese children: Enzyme-linked immunosorbent assay measurement

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter

Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development

Low serum biotin in Japanese children fed with hydrolysate formula

Lactate and Pyruvate Levels in Blood and Cerebrospinal Fluid in Patients with Menkes Disease

Sexual precocity in a girl with early-onset Graves’ disease

Sexual precocity in a girl with early-onset Graves' disease

Interaction of PICK1 with C-Terminus of Growth Hormone–Releasing Hormone Receptor (GHRHR) Modulates Trafficking and Signal Transduction of Human GHRHR

Effect of copper and disulfiram combination therapy on the macular mouse, a model of Menkes disease

Compound Heterozygous Mutations in the Cholesterol Side-Chain Cleavage Enzyme Gene (CYP11A) Cause Congenital Adrenal Insufficiency in Humans

First Japanese case of Zellweger syndrome with a mutation in PEX14

Kallmann Syndrome Phenotype in a Female Patient with CHARGE Syndrome and CHD7 Mutation

Ultrasound Appearance of Thyroid Tissue in Hypothyroid Infants

Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome

Hypospadias in a Male Patient with 21-hydroxylase Deficiency

Hypospadias in a Male Patient with 21-hydroxylase Deficiency

Refractory autoimmune hemolytic anemia in a patient with chromosome 22q11.2 deletion syndrome

Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes

Hypophosphatemia in juvenile patients with systemic lupus erythematosus

Novel CYP17A1 mutation in a Japanese patient with combined 17 α -hydroxylase/17,20-lyase deficiency

Kallmann Syndrome Phenotype in a Female Patient with CHARGE Syndrome and CHD7 Mutation

Efficacy and Safety of Pitavastatin in Japanese Male Children with Familial Hypercholesterolemia

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