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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.838-846

2021

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Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.431-444

2022

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Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

PLoS genetics, 2020-02, Vol.16 (2), p.e1008628-e1008628

2020

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Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.826-837

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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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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Hypoketotic hypoglycemia in citrin deficiency: a case report

BMC pediatrics, 2020-09, Vol.20 (1), p.444-444, Article 444

2020

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A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system

Molecular genetics and metabolism reports, 2023-06, Vol.35, p.100970-100970, Article 100970

2023

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Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101061, Article 101061

2024

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Case report: Young-onset large vessel ischemic stroke due to hyperhomocysteinemia associated with the C677T polymorphism on 5,10-methylenetetrahydrofolate reductase and multi-vitamin deficiency

Frontiers in neurology, 2023-05, Vol.14, p.1183306

2023

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Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100923, Article 100923

2022

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Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening

Molecular genetics and metabolism reports, 2022-03, Vol.30, p.100834-100834, Article 100834

2022

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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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Effects of gamma-ray irradiation on crevice corrosion repassivation potential of stainless steel in high temperature diluted simulated seawater

Journal of nuclear science and technology, 2016-07, Vol.53 (7), p.981-991

2016

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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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Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100674-100674, Article 100674

2020

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Composite electromagnetic wave absorber made of soft magnetic material and polystyrene resin and control of permeability and permittivity

Journal of the European Ceramic Society, 2010, Vol.30 (2), p.347-353

2010

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Cathodic polarization curves of the oxygen reduction reaction on various structural materials of boiling water reactors in high temperature-high purity water

Journal of nuclear science and technology, 2012-05, Vol.49 (5), p.551-561

2012

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[Paper] A Low Noise and High Sensitivity Image Sensor with Imaging and Phase-Difference Detection AF in All Pixels

ITE TRANSACTIONS ON MEDIA TECHNOLOGY AND APPLICATIONS, 2016, Vol.4 (2), p.123-128

2016

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Feasible point-of-care testing method for monitoring blood phenylalanine levels using phenylalanine ammonia lyase and portable ammonia detection system

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108170, Article 108170

2024

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High temperature electrochemical reaction parameters affecting electrochemical corrosion potential of Ni-base Alloy 182

Journal of nuclear science and technology, 2023-03, Vol.60 (3), p.334-342

2023

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Flow accelerated corrosion of carbon steel containing chromium under water chemistry conditions of boiling water reactor applying mitigation techniques of corrosive environment

Journal of nuclear science and technology, 2022-06, Vol.59 (6), p.709-724

2022

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High temperature electrochemical reaction parameters affecting elecrochemical corrosion potential of type 316L stainless steel

Journal of nuclear science and technology, 2022-04, Vol.59 (4), p.491-498

2022

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High temperature electrochemical reaction parameters affecting electrochemical corrosion potential of nickel-base Alloy 82 weld metal

Journal of nuclear science and technology, 2024-10, Vol.61 (10), p.1308-1319

2024

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High temperature electrochemical reaction parameters affecting electrochemical corrosion potential of stainless steels in hydrogen peroxide environment

Journal of nuclear science and technology, 2024-06, Vol.61 (6), p.789-801

2024

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Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age

Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan

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

Biallelic GALM pathogenic variants cause a novel type of galactosemia

Hypoketotic hypoglycemia in citrin deficiency: a case report

A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system

Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency

Case report: Young-onset large vessel ischemic stroke due to hyperhomocysteinemia associated with the C677T polymorphism on 5,10-methylenetetrahydrofolate reductase and multi-vitamin deficiency

Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency

Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening

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

Effects of gamma-ray irradiation on crevice corrosion repassivation potential of stainless steel in high temperature diluted simulated seawater

Biallelic GALM pathogenicvariants cause a novel type of galactosemia

Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency

Composite electromagnetic wave absorber made of soft magnetic material and polystyrene resin and control of permeability and permittivity

Cathodic polarization curves of the oxygen reduction reaction on various structural materials of boiling water reactors in high temperature-high purity water

[Paper] A Low Noise and High Sensitivity Image Sensor with Imaging and Phase-Difference Detection AF in All Pixels

Feasible point-of-care testing method for monitoring blood phenylalanine levels using phenylalanine ammonia lyase and portable ammonia detection system

High temperature electrochemical reaction parameters affecting electrochemical corrosion potential of Ni-base Alloy 182

Flow accelerated corrosion of carbon steel containing chromium under water chemistry conditions of boiling water reactor applying mitigation techniques of corrosive environment

High temperature electrochemical reaction parameters affecting elecrochemical corrosion potential of type 316L stainless steel

High temperature electrochemical reaction parameters affecting electrochemical corrosion potential of nickel-base Alloy 82 weld metal

High temperature electrochemical reaction parameters affecting electrochemical corrosion potential of stainless steels in hydrogen peroxide environment

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