Rie Kawakita

Osaka, Japan

Last Updated: 09/26/2026

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Found 21 publications

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.

Journal: Journal of diabetes investigation

Published: January 08, 2025

Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.

Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.

Journal: Scientific reports

Published: September 27, 2022

Possible critical region associated with late-onset spasms in 17p13.1-p13.2 microdeletion syndrome: a report of two new cases and review of the literature.

Possible critical region associated with late-onset spasms in 17p13.1-p13.2 microdeletion syndrome: a report of two new cases and review of the literature.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: June 02, 2022

Identification of clinical factors related to antibody-mediated immune response to the subfornical organ.

Identification of clinical factors related to antibody-mediated immune response to the subfornical organ.

Journal: Clinical endocrinology

Published: May 15, 2021

Accelerated pubertal onset in short children with delayed bone age.

Accelerated pubertal onset in short children with delayed bone age.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: May 03, 2021

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).

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: Journal of diabetes investigation

Published: October 02, 2019

Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10.

Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: May 07, 2019

Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young.

Pregnancy outcome of Japanese patients with glucokinase-maturity-onset diabetes of the young.

Journal: Journal of diabetes investigation

Published: December 04, 2018

Growth Hormone Treatment for Achondroplasia.

Growth Hormone Treatment for Achondroplasia.

Journal: Pediatric endocrinology reviews : PER

Published: November 01, 2018

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.

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.

Journal: Pediatric diabetes

Published: March 05, 2018

Chromosome 6q24-related diabetes mellitus.

Chromosome 6q24-related diabetes mellitus.

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

Published: January 05, 2018

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.

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.

Journal: Endocrine journal

Published: July 14, 2017

Showing 1-12 of 21

Last Updated: 09/26/2026