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Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.685-693

2017

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Hypocarnitinemia Observed in an Infant Treated with Short-Term Administration of Antibiotic Containing Pivalic Acid

The Tohoku Journal of Experimental Medicine, 2018, Vol.244(4), pp.279-282

2018

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Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101047-101047, Article 101047

2024

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Biallelic GALM pathogenic variants cause a novel type of galactosemia

Genetics in medicine, 2019-06, Vol.21 (6), p.1286-1294

2019

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Clinical perspective on the use of human amniotic epithelial cells to treat congenital metabolic diseases with a focus on maple syrup urine disease

Stem cells translational medicine, 2021-06, Vol.10 (6), p.829-835

2021

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Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

Molecular genetics and metabolism, 2017-11, Vol.122 (3), p.67-75

2017

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Study protocol: a multicenter, uncontrolled, open-label study of palivizumab in neonates, infants, and preschool children at high risk of severe respiratory syncytial virus infection

BMC pediatrics, 2021-03, Vol.21 (1), p.106-9, Article 106

2021

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Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy, 2019-11, Vol.25 (11), p.913-916

2019

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Severe rotavirus gastroenteritis in children older than 5 years after vaccine introduction

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy, 2021-04, Vol.27 (4), p.598-603

2021

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Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency

Brain & development (Tokyo. 1979), 2021-02, Vol.43 (2), p.214-219

2021

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Physical, cognitive, and social status of patients with urea cycle disorders in Japan

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100724-100724, Article 100724

2021

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Severe hypoglycemic encephalopathy due to hypoallergenic formula in an infant

Pediatrics international, 2016-08, Vol.58 (8), p.778-781

2016

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Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia

Genetics in medicine, 2020-07, Vol.22 (7), p.1281-1281

2020

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Isolation and characterization of neural crest-like progenitor cells in human umbilical cord blood

Regenerative therapy, 2020-12, Vol.15, p.53-63

2020

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Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria

PloS one, 2014-01, Vol.9 (1), p.e86606

2014

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Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease

Science progress (1916), 2021-04, Vol.104 (2), p.368504211011873-368504211011873

2021

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Umbilical artery tissue contains p75 neurotrophin receptor-positive pericyte-like cells that possess neurosphere formation capacity and neurogenic differentiation potential

Regenerative therapy, 2021-03, Vol.16, p.1-11

2021

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Biallelic GALM pathogenicvariants cause a novel type of galactosemia

Genetics in medicine, 2019-06, Vol.21 (6), p.1286-1294

2019

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Nutrient management in the intrapartum period in maternal maple syrup urine disease

Molecular genetics and metabolism reports, 2021-03, Vol.26, p.100711, Article 100711

2021

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Jagged-1 Signaling in the Bone Marrow Microenvironment Promotes Endothelial Progenitor Cell Expansion and Commitment of CD133+ Human Cord Blood Cells for Postnatal Vasculogenesis

PloS one, 2016-11, Vol.11 (11), p.e0166660-e0166660

2016

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Living-donor liver transplantation for propionic acidemia

Pediatric transplantation, 2012-05, Vol.16 (3), p.230-234

2012

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Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey

Molecular genetics and metabolism reports, 2019-09, Vol.20, p.100496-100496, Article 100496

2019

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Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan

Molecular genetics and metabolism reports, 2018-06, Vol.15, p.55-63

2018

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Successful cord blood transplantation in a 42-day-old boy with infantile Krabbe disease

International journal of hematology, 2011-04, Vol.93 (4), p.566-568

2011

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Gene expression profiling of human amniotic epithelial cells: Expanding treatment horizons for inherited metabolic disorders

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108321, Article 108321

2024

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Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Hypocarnitinemia Observed in an Infant Treated with Short-Term Administration of Antibiotic Containing Pivalic Acid

Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Clinical perspective on the use of human amniotic epithelial cells to treat congenital metabolic diseases with a focus on maple syrup urine disease

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

Study protocol: a multicenter, uncontrolled, open-label study of palivizumab in neonates, infants, and preschool children at high risk of severe respiratory syncytial virus infection

Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis

Severe rotavirus gastroenteritis in children older than 5 years after vaccine introduction

Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency

Physical, cognitive, and social status of patients with urea cycle disorders in Japan

Severe hypoglycemic encephalopathy due to hypoallergenic formula in an infant

Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia

Isolation and characterization of neural crest-like progenitor cells in human umbilical cord blood

Detection of novel visible-light region absorbance peaks in the urine after alkalization in patients with alkaptonuria

Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease

Umbilical artery tissue contains p75 neurotrophin receptor-positive pericyte-like cells that possess neurosphere formation capacity and neurogenic differentiation potential

Biallelic GALM pathogenicvariants cause a novel type of galactosemia

Nutrient management in the intrapartum period in maternal maple syrup urine disease

Jagged-1 Signaling in the Bone Marrow Microenvironment Promotes Endothelial Progenitor Cell Expansion and Commitment of CD133+ Human Cord Blood Cells for Postnatal Vasculogenesis

Living-donor liver transplantation for propionic acidemia

Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey

Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan

Successful cord blood transplantation in a 42-day-old boy with infantile Krabbe disease

Gene expression profiling of human amniotic epithelial cells: Expanding treatment horizons for inherited metabolic disorders

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