Zhehui H. Chen

10# Zhenhai Road
Xiamen, China

Last Updated: 09/26/2026

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Found 27 publications

A de novo mutation in RAB11A is associated with neurodevelopmental disorder accompanied by variable multisystem abnormalities.

A de novo mutation in RAB11A is associated with neurodevelopmental disorder accompanied by variable multisystem abnormalities.

Journal: Frontiers in genetics

Published: May 27, 2025

COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.

COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.

Journal: PLoS genetics

Published: May 08, 2025

Generation of an induced pluripotent stem cell (iPSC) line (XMUi001-A) derived from a patient harboring homozygous mutations c.370G > A (p.Gly124Ser) in the COQ4 gene.

Generation of an induced pluripotent stem cell (iPSC) line (XMUi001-A) derived from a patient harboring homozygous mutations c.370G > A (p.Gly124Ser) in the COQ4 gene.

Journal: Stem cell research

Published: March 31, 2025

Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders.

Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders.

Journal: BMC pediatrics

Published: December 22, 2024

Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.

Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.

Journal: Orphanet journal of rare diseases

Published: June 27, 2024

Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.

Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.

Journal: BMC pediatrics

Published: May 06, 2024

Dysregulation of cerebrospinal fluid metabolism profiles in spinal muscular atrophy patients: a case control study.

Dysregulation of cerebrospinal fluid metabolism profiles in spinal muscular atrophy patients: a case control study.

Journal: Italian journal of pediatrics

Published: April 17, 2024

Analysis of 9 patients with adolescence-onset methylenetetrahydrofolate reductase deficiency

Analysis of 9 patients with adolescence-onset methylenetetrahydrofolate reductase deficiency

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: March 25, 2024

Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency.

Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency.

Journal: BMC pediatrics

Published: January 28, 2024

Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.

Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.

Journal: BMC medical genomics

Published: November 04, 2023

Safety Concerns with Nusinersen, Risdiplam, and Onasemnogene Abeparvovec in Spinal Muscular Atrophy: A Real-World Pharmacovigilance Study.

Safety Concerns with Nusinersen, Risdiplam, and Onasemnogene Abeparvovec in Spinal Muscular Atrophy: A Real-World Pharmacovigilance Study.

Journal: Clinical drug investigation

Published: October 25, 2023

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.

Journal: BMC pediatrics

Published: July 23, 2023

Showing 1-12 of 27

Last Updated: 09/26/2026