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Urea cycle disorders-update

Journal of human genetics, 2019-09, Vol.64 (9), p.833-847

2019

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Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

Journal of human genetics, 2019-08, Vol.64 (8), p.741-755

2019

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Methionine Metabolism Regulates Maintenance and Differentiation of Human Pluripotent Stem Cells

Cell metabolism, 2014-05, Vol.19 (5), p.780-794

2014

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Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment

Metabolic brain disease, 2018-10, Vol.33 (5), p.1517-1523

2018

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Unexpectedly High Prevalence of Coronary Spastic Angina in Patients With Anderson-Fabry Disease

Circulation Journal, 2019/01/25, Vol.83(2), pp.481-484

2019

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Pharmacokinetics, safety, and tolerability of sodium phenylacetate and sodium benzoate in healthy Japanese volunteers: A phase I, single-center, open-label study

Drug metabolism and pharmacokinetics, 2023-02, Vol.48, p.100474, Article 100474

2023

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Current status of newborn screening for Pompe disease in Japan

Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.516-516, Article 516

2021

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Effect of AlN addition on the reaction sintering of Al2TiO5 composites fabricated by spark plasma sintering

Journal of Asian Ceramic Societies, 2023-04, Vol.11 (2), p.225-231

2023

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Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients

Journal of human genetics, 2017-07, Vol.62 (7), p.665-670

2017

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Diagnosis and treatment of urea cycle disorder in Japan

Pediatrics international, 2014-08, Vol.56 (4), p.506-509

2014

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Fabry disease screening in high-risk populations in Japan: a nationwide study

Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.1-220, Article 220

2020

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Biochemical and clinical features of hereditary hyperprolinemia

Pediatrics international, 2014-08, Vol.56 (4), p.492-496

2014

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Plasma exchange and chelator therapy rescues acute liver failure in Wilson disease without liver transplantation

Hepatology research, 2017-03, Vol.47 (4), p.359-363

2017

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Newborn screening for lysosomal storage disorders

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-02, Vol.157C (1), p.63-71

2011

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Newborn screening for Fabry disease in the western region of Japan

Molecular genetics and metabolism reports, 2020-03, Vol.22, p.100562-100562, Article 100562

2020

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Diagnosis and treatment of hereditary tyrosinemia in Japan

Pediatrics international, 2015-02, Vol.57 (1), p.37-40

2015

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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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High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations

Journal of human genetics, 2019-09, Vol.64 (9), p.891-898

2019

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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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Prenatal diagnosis of Gaucher disease using next-generation sequencing

Pediatrics international, 2016-09, Vol.58 (9), p.946-949

2016

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Clinical manifestations and growth of patients with urea cycle disorders in Japan

Journal of human genetics, 2016-07, Vol.61 (7), p.613-616

2016

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Medically dependent severe motor and intellectual disabilities: Time study of medical care

Pediatrics international, 2017-06, Vol.59 (6), p.714-719

2017

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Time study of staff members in an institution for severe motor and intellectual disabilities

Pediatrics international, 2015-12, Vol.57 (6), p.1154-1158

2015

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High-risk screening for Gaucher disease in patients with neurological symptoms

Journal of human genetics, 2018-06, Vol.63 (6), p.717-721

2018

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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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Urea cycle disorders-update

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

Methionine Metabolism Regulates Maintenance and Differentiation of Human Pluripotent Stem Cells

Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment

Unexpectedly High Prevalence of Coronary Spastic Angina in Patients With Anderson-Fabry Disease

Pharmacokinetics, safety, and tolerability of sodium phenylacetate and sodium benzoate in healthy Japanese volunteers: A phase I, single-center, open-label study

Current status of newborn screening for Pompe disease in Japan

Effect of AlN addition on the reaction sintering of Al2TiO5 composites fabricated by spark plasma sintering

Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients

Diagnosis and treatment of urea cycle disorder in Japan

Fabry disease screening in high-risk populations in Japan: a nationwide study

Biochemical and clinical features of hereditary hyperprolinemia

Plasma exchange and chelator therapy rescues acute liver failure in Wilson disease without liver transplantation

Newborn screening for lysosomal storage disorders

Newborn screening for Fabry disease in the western region of Japan

Diagnosis and treatment of hereditary tyrosinemia in Japan

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

High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations

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

Prenatal diagnosis of Gaucher disease using next-generation sequencing

Clinical manifestations and growth of patients with urea cycle disorders in Japan

Medically dependent severe motor and intellectual disabilities: Time study of medical care

Time study of staff members in an institution for severe motor and intellectual disabilities

High-risk screening for Gaucher disease in patients with neurological symptoms

Citrulline for urea cycle disorders in Japan

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