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Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2

Molecular genetics and metabolism, 2019-07, Vol.127 (3), p.175-183

2019

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Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency

Pediatrics international, 2021-04, Vol.63 (4), p.482-484

2021

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Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia

Molecular genetics and metabolism, 2021-05, Vol.133 (1), p.63-70

2021

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The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

International journal of neonatal screening, 2021-10, Vol.7 (4), p.68

2021

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Sapropterin Is Safe and Effective in Patients less than 4-Years-Old with BH4 -Responsive Phenylalanine Hydroxylase Deficiency

The Journal of pediatrics, 2014-12, Vol.165 (6), p.1241-1244

2014

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Policy statement of enteral nutrition for preterm and very low birthweight infants

Pediatrics international, 2020-02, Vol.62 (2), p.124-127

2020

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Food Preferences of Patients with Citrin Deficiency

Nutrients, 2021-09, Vol.13 (9), p.3123

2021

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Long-term outcome and intervention of urea cycle disorders in Japan

Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.777-785

2012

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Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes

Journal of human genetics, 2013-05, Vol.58 (5), p.285-292

2013

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Citrulline for urea cycle disorders in Japan

Pediatrics international, 2017-04, Vol.59 (4), p.422-426

2017

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Guide for diagnosis and treatment of hyperphenylalaninemia

Pediatrics international, 2021-01, Vol.63 (1), p.8-12

2021

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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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Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia

Intractable & Rare Diseases Research, 2021/05/31, Vol.10(2), pp.126-130

2021

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Clinical features and management of organic acidemias in Japan

Journal of human genetics, 2013-12, Vol.58 (12), p.769-774

2013

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Kleine–Levin syndrome elicited by encephalopathy with reversible splenial lesion

Pediatrics international, 2017-08, Vol.59 (8), p.929-931

2017

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Mucolipidosis II and III alpha beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation

Journal of human genetics, 2009-03, Vol.54 (3), p.145-151

2009

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HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

Journal of human genetics, 2011-10, Vol.56 (10), p.707-715

2011

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Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening

Journal of bone and mineral metabolism, 2011-11, Vol.29 (6), p.737-743

2011

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High‐dose phenobarbital with intermittent short‐acting barbiturates for acute encephalitis with refractory, repetitive partial seizures

Pediatrics international, 2016-08, Vol.58 (8), p.750-753

2016

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Fatigue and quality of life in citrin deficiency during adaptation and compensation stage

Molecular genetics and metabolism, 2013-05, Vol.109 (1), p.9-13

2013

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Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life

Clinica chimica acta, 2014-06, Vol.433, p.1-4

2014

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Maternal feeding controls fetal biological clock

PloS one, 2008-07, Vol.3 (7), p.e2601-e2601

2008

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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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Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

Nature genetics, 1999-01, Vol.21 (1), p.91-94

1999

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Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency

Hepatology research, 2010-03, Vol.40 (3), p.295-303

2010

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Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2

Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency

Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

Sapropterin Is Safe and Effective in Patients less than 4-Years-Old with BH4 -Responsive Phenylalanine Hydroxylase Deficiency

Policy statement of enteral nutrition for preterm and very low birthweight infants

Food Preferences of Patients with Citrin Deficiency

Long-term outcome and intervention of urea cycle disorders in Japan

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes

Citrulline for urea cycle disorders in Japan

Guide for diagnosis and treatment of hyperphenylalaninemia

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

Saccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia

Clinical features and management of organic acidemias in Japan

Kleine–Levin syndrome elicited by encephalopathy with reversible splenial lesion

Mucolipidosis II and III alpha beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening

High‐dose phenobarbital with intermittent short‐acting barbiturates for acute encephalitis with refractory, repetitive partial seizures

Fatigue and quality of life in citrin deficiency during adaptation and compensation stage

Changes of lipoproteins in phenylalanine hydroxylase-deficient children during the first year of life

Maternal feeding controls fetal biological clock

First Japanese case of Zellweger syndrome with a mutation in PEX14

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency

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