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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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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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Food Preferences of Patients with Citrin Deficiency

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

2021

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Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan

Journal of human genetics, 2011-04, Vol.56 (4), p.306-312

2011

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Reliability and validity of the PedsQL™ Multidimensional Fatigue Scale in Japan

Quality of life research, 2011-09, Vol.20 (7), p.1091-1102

2011

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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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Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

Journal of human genetics, 2012-02, Vol.57 (2), p.145-152

2012

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Wireless capsule endoscopy in pediatric patients: the first series from Japan

Journal of gastroenterology, 2010-07, Vol.45 (7), p.683-691

2010

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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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Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

Journal of human genetics, 2012-09, Vol.57 (9), p.593-600

2012

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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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Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency

Biochimica et biophysica acta. Molecular basis of disease, 2015-09, Vol.1852 (9), p.1787-1795

2015

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Nutritional status of patients with phenylketonuria in Japan

Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.103-110

2016

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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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Optimal serum phenylalanine for adult patients with phenylketonuria

Molecular genetics and metabolism, 2013-12, Vol.110 (4), p.424-430

2013

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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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Intractable Absence Seizures in Hyperinsulinism-Hyperammonemia Syndrome

Pediatric neurology, 2012-08, Vol.47 (2), p.119-122

2012

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Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency

Journal of genetics, 2015-03, Vol.94 (1), p.147-150

2015

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Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects

Metabolism, clinical and experimental, 2009-03, Vol.58 (3), p.278-282

2009

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Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation

European journal of pediatrics, 2002-11, Vol.161 (11), p.609-613

2002

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Protein‐losing gastropathy in a child and Guillain–Barré syndrome in a father caused by intrafamilial infection

Pediatrics international, 2010-06, Vol.52 (3), p.e167-e170

2010

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Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes

Molecular genetics and metabolism, 2007, Vol.90 (1), p.30-36

2007

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Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication

Rapid communications in mass spectrometry, 2009-10, Vol.23 (19), p.3167-3172

2009

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Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency

Pediatric research, 2004-10, Vol.56 (4), p.608-614

2004

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Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome

Osaka City medical journal, 2011-06, Vol.57 (1), p.1

2011

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

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

Food Preferences of Patients with Citrin Deficiency

Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan

Reliability and validity of the PedsQL™ Multidimensional Fatigue Scale in Japan

Guide for diagnosis and treatment of hyperphenylalaninemia

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

Wireless capsule endoscopy in pediatric patients: the first series from Japan

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

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

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

Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency

Nutritional status of patients with phenylketonuria in Japan

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

Optimal serum phenylalanine for adult patients with phenylketonuria

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

Intractable Absence Seizures in Hyperinsulinism-Hyperammonemia Syndrome

Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency

Evaluation of endogenous nitric oxide synthesis in congenital urea cycle enzyme defects

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation

Protein‐losing gastropathy in a child and Guillain–Barré syndrome in a father caused by intrafamilial infection

Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes

Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication

Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency

Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome

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