Tokuo Mukai - Publications

Congenital aldosterone deficiency and its resistance.

Journal: Endocrine journal

Published: March 29, 2026

Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report

Journal: Journal of clinical research in pediatric endocrinology

Published: August 19, 2022

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

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: January 31, 2022

A mutation of the β-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1β expression.

Journal: European journal of endocrinology

Published: November 12, 2020

A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.

Journal: European journal of medical genetics

Published: June 26, 2020

Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 30, 2020

Sufficient increment of sulfonylurea without reintroduction of insulin ameliorates pubertal deterioration of glycaemic control in KCNJ11 neonatal diabetes treated with long-term sulfonylurea.

Journal: Diabetologia

Published: March 17, 2020

Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.

Journal: The journal of physiological sciences : JPS

Published: December 11, 2019

Pituitary apoplexy after cardiac surgery in a 14-year-old girl with Carney complex: a case report.

Journal: Endocrine journal

Published: September 06, 2019

Increased diagnosis of autoimmune childhood-onset Japanese type 1 diabetes using a new glutamic acid decarboxylase antibody enzyme-linked immunosorbent assay kit, compared with a previously used glutamic acid decarboxylase antibody radioimmunoassay kit.

Journal: Journal of diabetes investigation

Published: August 29, 2019

Non-invasive discrimination of acute focal bacterial nephritis with pyelonephritis.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: September 05, 2018

Severe gastrointestinal involvement predictive score in IgA vasculitis is also a risk factor for nephritis being varied depending on their ages of onset.

Journal: Journal of paediatrics and child health

Published: April 11, 2018