Keishin Sugawara

Kumamoto, Japan

Last Updated: 09/26/2026

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Found 38 publications

Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant.

Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant.

Journal: Human genome variation

Published: April 21, 2026

Riboflavin-responsive hyperprolinemia type I with a PRODH p.Thr466Met variant: Clinical and fibroblast-based evidence.

Riboflavin-responsive hyperprolinemia type I with a PRODH p.Thr466Met variant: Clinical and fibroblast-based evidence.

Journal: Molecular genetics and metabolism

Published: January 11, 2026

Implementation of a dried blood spot-based Newborn screening program for adenosine deaminase deficiency: An initial experience in Japan.

Implementation of a dried blood spot-based Newborn screening program for adenosine deaminase deficiency: An initial experience in Japan.

Journal: Molecular genetics and metabolism

Published: December 20, 2025

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.

Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.

Journal: Molecular genetics and metabolism

Published: December 12, 2025

Newborn screening for Fabry disease in Japan: an additional 3-year report.

Newborn screening for Fabry disease in Japan: an additional 3-year report.

Journal: Molecular genetics and metabolism reports

Published: November 14, 2025

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.

Non-pterygium Escobar syndrome from compound-heterozygous CHRNG variants: genotype-phenotype insights.

Journal: Human genome variation

Published: November 02, 2025

ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype.

ZMYND11 p.Arg600Trp variant associated with a distinctive neurodevelopmental phenotype.

Journal: Human genome variation

Published: October 20, 2025

T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.

T-Cell Receptor Excision Circle/Kappa-Deleting Recombination Excision Circle-Based Newborn Screening Program for Severe Combined Immunodeficiency in Kumamoto, Japan.

Journal: Cell biochemistry and biophysics

Published: August 22, 2025

The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.

The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study.

Journal: Molecular genetics and metabolism

Published: July 02, 2025

The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation-Wide Study.

The Current Status of Adult Patients With Urea Cycle Disorders in Japan: From the Nation-Wide Study.

Journal: Journal of inherited metabolic disease

Published: June 16, 2025

Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant.

Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant.

Journal: Human genome variation

Published: April 12, 2025

The current social status in adult patients with urea cycle disorders in Japan.

The current social status in adult patients with urea cycle disorders in Japan.

Journal: Molecular genetics and metabolism

Published: March 02, 2025

Showing 1-12 of 38

Last Updated: 09/26/2026