Hiromi Nyuzuki

Niigata, Japan

Last Updated: 09/26/2026

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Found 36 publications

Post-mortem diagnosis of CACT deficiency with a novel SLC25A20 variant.

Post-mortem diagnosis of CACT deficiency with a novel SLC25A20 variant.

Journal: Human genome variation

Published: April 27, 2026

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Journal: Molecular genetics & genomic medicine

Published: March 23, 2026

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.

Journal: Biochemistry and biophysics reports

Published: December 22, 2025

Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.

Long-Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch-Over and 12-Month Extension Study.

Journal: JIMD reports

Published: December 01, 2025

Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly.

Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly.

Journal: Human genome variation

Published: July 23, 2025

Atypical case of neonatal-onset Gaucher disease type 3b: A case report.

Atypical case of neonatal-onset Gaucher disease type 3b: A case report.

Journal: Molecular genetics and metabolism reports

Published: December 23, 2024

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.

Journal: Orphanet journal of rare diseases

Published: December 05, 2024

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.

Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.

Journal: Human genome variation

Published: September 27, 2024

Robust growth hormone responses to GH-releasing peptide 2 in adolescents.

Robust growth hormone responses to GH-releasing peptide 2 in adolescents.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: March 08, 2024

Conversion therapy with pembrolizumab for a peritoneal metastasis of rectal cancer causing hydronephrosis in a patient with Lynch syndrome.

Conversion therapy with pembrolizumab for a peritoneal metastasis of rectal cancer causing hydronephrosis in a patient with Lynch syndrome.

Journal: Clinical journal of gastroenterology

Published: December 26, 2023

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 10, 2023

Clonal origin and genomic diversity in Lynch syndrome-associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H.

Clonal origin and genomic diversity in Lynch syndrome-associated endometrial cancer with multiple synchronous tumors: Identification of the pathogenicity of MLH1 p.L582H.

Journal: Genes, chromosomes & cancer

Published: December 05, 2023

Showing 1-12 of 36

Last Updated: 09/26/2026