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Monogenic Diabetes in Children

Journal of the Japan Diabetes Society, 2019/08/30, Vol.62(8), pp.464-467

Yorifuji, Tohru

2019

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New classification and diagnostic criteria for insulin resistance syndrome

Endocrine Journal, 2022, Vol.69(2), pp.107-113

2022

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The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline

The journal of clinical endocrinology and metabolism, 2016-12, Vol.101 (12), p.4500-4511

2016

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Nationwide survey of endogenous hyperinsulinemic hypoglycemia in Japan (2017–2018): Congenital hyperinsulinism, insulinoma, non‐insulinoma pancreatogenous hypoglycemia syndrome and insulin autoimmune syndrome (Hirata’s disease)

Journal of diabetes investigation, 2020-05, Vol.11 (3), p.554-563

2020

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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Genetics in medicine, 2017-12, Vol.19 (12), p.1356-1366

2017

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Glucokinase maturity-onset diabetes of the young as a mimicker of stress hyperglycemia: a case report

Clinical Pediatric Endocrinology, 2023, Vol.32(1), pp.72-75

2023

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Increased frequency of central precocious puberty during the coronavirus disease (COVID-19) pandemic at a single center in the Osaka Metropolitan Area of Japan

Clinical Pediatric Endocrinology, 2023, Vol.32(1), pp.58-64

2023

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Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan

Journal of diabetes investigation, 2020-05, Vol.11 (3), p.603-616

2020

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Practice guideline for lipodystrophy syndromes—clinically important diseases of the Japan Endocrine Society (JES)

Endocrine Journal, 2021, Vol.68(9), pp.1027-1042

2021

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Targeted gene panel analysis of Japanese patients with maturity‐onset diabetes of the young‐like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes

Journal of diabetes investigation, 2023-03, Vol.14 (3), p.387-403

2023

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A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus

Internal Medicine, 2024, pp.2743-23

2024

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A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation

Internal Medicine, 2022/05/01, Vol.61(9), pp.1387-1392

2022

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Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry

Endocrine Journal, 2017, Vol.64(9), pp.867-880

2017

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A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2

Journal of bone and mineral research, 2014-04, Vol.29 (4), p.992-998

2014

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A case of diffuse congenital hyperinsulinism in which continuous glucose monitoring contributed to the choice of a treatment strategy following a subtotal pancreatectomy

Clinical Pediatric Endocrinology, 2024, Vol.33(3), pp.174-180

2024

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Clinical practice guidelines for congenital hyperinsulinism

Clinical Pediatric Endocrinology, 2017, Vol.26(3), pp.127-152

2017

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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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Longitudinal Glycaemic Profiles during Remission in 6q24-Related Transient Neonatal Diabetes Mellitus

Hormone research in paediatrics, 2021, Vol.94 (5-6), p.229-234

2021

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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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Heterogeneous nature of diabetes in a family with a gain-of-function mutation in the ATP-binding cassette subfamily C member 8 (ABCC8) gene

Endocrine Journal, 2018, Vol.65(10), pp.1055-1059

2018

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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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Congenital hyperinsulinism: current status and future perspectives

Annals of Pediatric Endocrinology & Metabolism, 2014, 19(2), , pp.57-68

Yorifuji, Tohru

2014

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New classification and diagnostic criteria for insulin resistance syndrome

Diabetology international, 2022-04, Vol.13 (2), p.337-343

2022

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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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Congenital hyperinsulinism: Global and Japanese perspectives

Pediatrics international, 2014-08, Vol.56 (4), p.467-476

2014

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Monogenic Diabetes in Children

New classification and diagnostic criteria for insulin resistance syndrome

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline

Nationwide survey of endogenous hyperinsulinemic hypoglycemia in Japan (2017–2018): Congenital hyperinsulinism, insulinoma, non‐insulinoma pancreatogenous hypoglycemia syndrome and insulin autoimmune syndrome (Hirata’s disease)

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Glucokinase maturity-onset diabetes of the young as a mimicker of stress hyperglycemia: a case report

Increased frequency of central precocious puberty during the coronavirus disease (COVID-19) pandemic at a single center in the Osaka Metropolitan Area of Japan

Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan

Practice guideline for lipodystrophy syndromes—clinically important diseases of the Japan Endocrine Society (JES)

Targeted gene panel analysis of Japanese patients with maturity‐onset diabetes of the young‐like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes

A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus

A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation

Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry

A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2

A case of diffuse congenital hyperinsulinism in which continuous glucose monitoring contributed to the choice of a treatment strategy following a subtotal pancreatectomy

Clinical practice guidelines for congenital hyperinsulinism

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

Longitudinal Glycaemic Profiles during Remission in 6q24-Related Transient Neonatal Diabetes Mellitus

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

Heterogeneous nature of diabetes in a family with a gain-of-function mutation in the ATP-binding cassette subfamily C member 8 (ABCC8) gene

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

Congenital hyperinsulinism: current status and future perspectives

New classification and diagnostic criteria for insulin resistance syndrome

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

Congenital hyperinsulinism: Global and Japanese perspectives

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