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Endocrinopathies in Inborn Errors of Immunity

Frontiers in immunology, 2021-11, Vol.12, p.786241-786241

2021

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Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists

Endocrine Journal, 2022, Vol.69(1), pp.75-83

2022

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Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan

Frontiers in pediatrics, 2022-06, Vol.10, p.936944

2022

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Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy, 2022-06, Vol.28 (6), p.814-818

2022

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Autonomously functioning thyroid nodule due to a somatic TSHR mutation

Pediatrics international, 2022-01, Vol.64 (1), p.e15157-n/a

2022

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Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Endocrine Journal, 2020, Vol.67(8), pp.853-857

2020

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Monitoring hypoparathyroidism in long QT syndrome detected by electrocardiogram screening

Pediatrics international, 2023-01, Vol.65 (1), p.e15481-n/a

2023

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Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants

Endocrine, 2020-10, Vol.70 (1), p.71-77

2020

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Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia

Endocrine Journal, 2020, Vol.67(12), pp.1227-1232

2020

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The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

Clinical endocrinology (Oxford), 2021-02, Vol.94 (2), p.229-236

2021

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Central diabetes insipidus developing in a 6-year-old patient 4 years after the remission of unifocal bone Langerhans cell histiocytosis

Clinical Pediatric Endocrinology, 2021, Vol.30(3), pp.149-153

2021

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Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation

Clinical endocrinology (Oxford), 2021-06, Vol.94 (6), p.940-948

2021

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An infant case of severe hypereosinophilia and systemic symptoms with multiple drug hypersensitivity and reactivation of cytomegalovirus and BK virus

Allergology international, 2017-07, Vol.66 (3), p.479-481

2017

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Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience

Clinical Pediatric Endocrinology, 2024, Vol.33(3), pp.187-194

2024

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Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Clinical Pediatric Endocrinology, 2022, Vol.31(3), pp.116-143

2022

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Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

Sexual development, 2023-08, Vol.17 (1), p.51-55

2023

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Complications of Listeria meningitis in two immunocompetent children

Pediatrics international, 2018-05, Vol.60 (5), p.491-492

2018

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A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus

Journal of human genetics, 2019-02, Vol.64 (2), p.177-181

2019

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Shared Decision-Making in Growth Hormone Therapy-Implications for Patient Care

Frontiers in endocrinology (Lausanne), 2018-11, Vol.9, p.688-688

2018

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Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young

Journal of diabetes investigation, 2019-11, Vol.10 (6), p.1586-1589

2019

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A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands

Frontiers in endocrinology (Lausanne), 2023-01, Vol.13, p.1033074-1033074

2023

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WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome

European journal of medical genetics, 2020-01, Vol.63 (1), p.103626-103626, Article 103626

2020

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Nocturnal enuresis is a possible symptom of pediatric paraganglioma: A case report

Clinical Pediatric Endocrinology, 2020, Vol.29(2), pp.85-87

2020

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Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development

Scientific reports, 2018-09, Vol.8 (1), p.13263-11, Article 13263

2018

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Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age

Clinical Pediatric Endocrinology, 2018, Vol.27(1), pp.31-38

2018

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Endocrinopathies in Inborn Errors of Immunity

Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists

Toward Improving the Transition of Patients With Congenital Adrenal Hyperplasia From Pediatrics to Adult Healthcare in Japan

Infliximab treatment for refractory COVID-19-associated multisystem inflammatory syndrome in a Japanese child

Autonomously functioning thyroid nodule due to a somatic TSHR mutation

Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan

Monitoring hypoparathyroidism in long QT syndrome detected by electrocardiogram screening

Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants

Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia

The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients

Central diabetes insipidus developing in a 6-year-old patient 4 years after the remission of unifocal bone Langerhans cell histiocytosis

Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation

An infant case of severe hypereosinophilia and systemic symptoms with multiple drug hypersensitivity and reactivation of cytomegalovirus and BK virus

Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

Complications of Listeria meningitis in two immunocompetent children

A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus

Shared Decision-Making in Growth Hormone Therapy-Implications for Patient Care

Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young

A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands

WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome

Nocturnal enuresis is a possible symptom of pediatric paraganglioma: A case report

Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development

Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age

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