Kohei Aoyama - Publications

Use, efficacy, and safety of desmopressin for congenital nephrogenic diabetes insipidus in children: a nationwide survey.

Journal: Endocrine journal

Published: January 28, 2026

Successful Treatment of a Very Low-Birth-Weight Infant With GATA6 Neonatal Diabetes Using Continuous Subcutaneous Insulin Infusion.

Journal: Cureus

Published: May 05, 2025

Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 28, 2023

Relationship between Birth Order and Postnatal Growth until 4 Years of Age: The Japan Environment and Children's Study.

Journal: Children (Basel, Switzerland)

Published: January 27, 2023

An infant with a heterozygous variant of ABCG5 presented with hypercholesterolemia only during breastfeeding.

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

Published: November 26, 2022

The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice.

Journal: Scientific reports

Published: November 02, 2021

An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant.

Journal: Human genome variation

Published: September 11, 2021

Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.

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

Published: May 02, 2021

Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan.

Journal: Frontiers in neurology

Published: February 27, 2021

Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.

Journal: Brain & development

Published: October 22, 2020

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.

Journal: Human genome variation

Published: March 29, 2020

Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: September 17, 2019