Yohei Sugiyama

Tokyo, Japan

Last Updated: 09/26/2026

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Found 19 publications

Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals.

Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals.

Journal: Brain & development

Published: July 16, 2025

Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement Therapy.

Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement Therapy.

Journal: Journal of inherited metabolic disease

Published: December 29, 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

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

Journal: Molecular genetics & genomic medicine

Published: July 17, 2024

Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.

Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.

Journal: NPJ genomic medicine

Published: March 19, 2024

Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.

Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.

Journal: Scientific reports

Published: July 25, 2023

Acute Encephalopathy Caused by Inherited Metabolic Diseases.

Acute Encephalopathy Caused by Inherited Metabolic Diseases.

Journal: Journal of clinical medicine

Published: March 23, 2023

Novel ITPA variants identified by whole genome sequencing and RNA sequencing.

Novel ITPA variants identified by whole genome sequencing and RNA sequencing.

Journal: Journal of human genetics

Published: February 26, 2023

Precision dual-comb spectroscopy using wavelength-converted frequency combs with low repetition rates.

Precision dual-comb spectroscopy using wavelength-converted frequency combs with low repetition rates.

Journal: Scientific reports

Published: September 19, 2022

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.

Journal: Molecular genetics and metabolism reports

Published: June 04, 2022

Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.

Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.

Journal: Mitochondrion

Published: August 17, 2021

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.

A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.

Journal: Orphanet journal of rare diseases

Published: July 14, 2021

Showing 1-12 of 19

Last Updated: 09/26/2026