Kazuhiro Ohkubo - Publications

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

Malignant transformation of phosphaturic mesenchymal tumor: a case report and literature review.

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

Published: October 14, 2019

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.

Journal: Molecular genetics & genomic medicine

Published: July 12, 2019

Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.

Journal: The Journal of pediatrics

Published: April 26, 2019

A Child with Prostaglandin I2-associated Thyrotoxicosis: Case Report

Journal: Journal of clinical research in pediatric endocrinology

Published: October 17, 2018

Vascular pathomechanism in acute encephalopathy with biphasic seizures and late reduced diffusion.

Journal: Journal of the neurological sciences

Published: May 25, 2018

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.

Journal: European journal of medical genetics

Published: December 04, 2017

Effective shunt closure for pulmonary hypertension and liver dysfunction in congenital portosystemic venous shunt.

Journal: Pediatric pulmonology

Published: April 23, 2017

Reappraising newborn screening for cobalamin C disorder.

Journal: Pediatrics and neonatology

Published: March 16, 2017

Sustained endocrine profiles of a girl with WAGR syndrome.

Journal: BMC medical genetics

Published: January 04, 2017

Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.

Journal: Pediatric diabetes

Published: November 11, 2016

Resolution of Hydronephrosis in a Patient With Mucopolysaccharidosis Type II With Enzyme Replacement Therapy.

Journal: Urology

Published: August 16, 2016