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Genetic basis of early‐onset, maturity‐onset diabetes of the young‐like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance

Pediatric diabetes, 2018-11, Vol.19 (7), p.1164-1172

2018

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Improved Liver Function and Relieved Pruritus after 4-Phenylbutyrate Therapy in a Patient with Progressive Familial Intrahepatic Cholestasis Type 2

The Journal of pediatrics, 2014-05, Vol.164 (5), p.1219-1227.e3

2014

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Refractory hypoglycemia and subsequent cardiogenic shock in starvation and refeeding: Report of three cases

Nutrition (Burbank, Los Angeles County, Calif.), 2014-09, Vol.30 (9), p.1090-1092

2014

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Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.134-134, Article 134

2019

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4-Phenylbutyrate modulates ubiquitination of hepatocanalicular MRP2 and reduces serum total bilirubin concentration

Journal of hepatology, 2012-05, Vol.56 (5), p.1136-1144

2012

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Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption

Hepatology research, 2016-02, Vol.46 (2), p.192-200

2016

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Tricaprin Rescues Myocardial Abnormality in a Mouse Model of Triglyceride Deposit Cardiomyovasculopathy

Journal of Oleo Science, 2018, Vol.67(8), pp.983-989

2018

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A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy

Molecular genetics and metabolism reports, 2023-03, Vol.34, p.100960, Article 100960

2023

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Craniotabes in Normal Newborns: The Earliest Sign of Subclinical Vitamin D Deficiency

The journal of clinical endocrinology and metabolism, 2008-05, Vol.93 (5), p.1784-1788

2008

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Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia

Pediatric diabetes, 2018-03, Vol.19 (2), p.259-264

2018

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Analyses for phosphatidylcholine hydroperoxides by LC/MS

Journal of chromatography. B, 2010-06, Vol.878 (20), p.1677-1682

2010

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Blood asymmetric dimethylarginine and nitrite/nitrate concentrations in short-stature children born small for gestational age with and without growth hormone therapy

Journal of international medical research, 2018-02, Vol.46 (2), p.761-772

2018

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Coronary triglyceride deposition in contemporary advanced diabetics

Pathology international, 2014-07, Vol.64 (7), p.325-335

2014

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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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Growth hormone activates hepatic and cerebral cholesterol metabolism in small-for-gestational age children without catch-up growth

Journal of clinical lipidology, 2017-07, Vol.11 (4), p.1032-1042

2017

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Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period

JIMD Reports, Volume 43, 2019, Vol.43, p.53-61

2019

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Selective evaluation of high density lipoprotein from mouse small intestine by an in situ perfusion technique[S]

Journal of lipid research, 2014-05, Vol.55 (5), p.905-918

2014

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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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Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages

EBioMedicine, 2018-01, Vol.27 (C), p.187-199

2018

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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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Metabolic improvements in intrahepatic porto-systemic venous shunt presenting various metabolic abnormalities by 4-phenylacetate

Clinica chimica acta, 2013-04, Vol.419, p.52-56

2013

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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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An improved HPLC assay for phosphatidylcholine hydroperoxides (PCOOH) in human plasma with synthetic PCOOH as internal standard

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2007-09, Vol.857 (1), p.158-163

2007

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Children’s toxicology from bench to bed - Liver Injury (3): Oxidative stress and anti-oxidant systems in liver of patients with wilson disease

The Journal of Toxicological Sciences, 2009/07/01, Vol.34(Special_), pp.SP229-SP236

2009

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Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

Journal of human genetics, 2007-04, Vol.52 (4), p.349-354

2007

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Genetic basis of early‐onset, maturity‐onset diabetes of the young‐like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance

Improved Liver Function and Relieved Pruritus after 4-Phenylbutyrate Therapy in a Patient with Progressive Familial Intrahepatic Cholestasis Type 2

Refractory hypoglycemia and subsequent cardiogenic shock in starvation and refeeding: Report of three cases

Triglyceride deposit cardiomyovasculopathy: a rare cardiovascular disorder

4-Phenylbutyrate modulates ubiquitination of hepatocanalicular MRP2 and reduces serum total bilirubin concentration

Successful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption

Tricaprin Rescues Myocardial Abnormality in a Mouse Model of Triglyceride Deposit Cardiomyovasculopathy

A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy

Craniotabes in Normal Newborns: The Earliest Sign of Subclinical Vitamin D Deficiency

Diagnosis of congenital hyperinsulinism: Biochemical profiles during hypoglycemia

Analyses for phosphatidylcholine hydroperoxides by LC/MS

Blood asymmetric dimethylarginine and nitrite/nitrate concentrations in short-stature children born small for gestational age with and without growth hormone therapy

Coronary triglyceride deposition in contemporary advanced diabetics

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

Growth hormone activates hepatic and cerebral cholesterol metabolism in small-for-gestational age children without catch-up growth

Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period

Selective evaluation of high density lipoprotein from mouse small intestine by an in situ perfusion technique[S]

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

Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages

Optimal serum phenylalanine for adult patients with phenylketonuria

Metabolic improvements in intrahepatic porto-systemic venous shunt presenting various metabolic abnormalities by 4-phenylacetate

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

An improved HPLC assay for phosphatidylcholine hydroperoxides (PCOOH) in human plasma with synthetic PCOOH as internal standard

Children’s toxicology from bench to bed - Liver Injury (3): Oxidative stress and anti-oxidant systems in liver of patients with wilson disease

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency

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