Yuki Hasegawa

Matsue, 6908506, Japan

Last Updated: 09/26/2026

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Found 35 publications

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan.

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan.

Journal: International journal of neonatal screening

Published: April 13, 2026

Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening.

Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening.

Journal: Molecular genetics and metabolism reports

Published: August 21, 2023

Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.

Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.

Journal: Molecular genetics and metabolism reports

Published: November 09, 2022

Near strangulation caused by hair tourniquet syndrome involving mother's hair.

Near strangulation caused by hair tourniquet syndrome involving mother's hair.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: March 19, 2022

The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.

The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.

Journal: Molecular genetics and metabolism

Published: November 04, 2021

Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.

Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.

Journal: International journal of neonatal screening

Published: May 26, 2021

Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.

Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: May 22, 2020

Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening.

Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening.

Journal: Molecular genetics and metabolism reports

Published: March 30, 2020

Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency.

Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency.

Journal: Human genome variation

Published: December 02, 2019

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.

Journal: Molecular genetics and metabolism reports

Published: September 11, 2019

A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.

A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.

Journal: JIMD reports

Published: March 21, 2019

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby.

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby.

Journal: JIMD reports

Published: March 04, 2019

Showing 1-12 of 35

Last Updated: 09/26/2026