Zhuwen W. Gong

No.1665, Kongjiang Road
Shanghai, 200092, China

Last Updated: 09/26/2026

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Found 36 publications

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.

Journal: Orphanet journal of rare diseases

Published: April 16, 2025

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.

Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.

Journal: Orphanet journal of rare diseases

Published: October 11, 2023

Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.

Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.

Journal: The Journal of molecular diagnostics : JMD

Published: November 21, 2022

Clinical and StAR genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia

Clinical and StAR genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia

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

Published: October 08, 2022

Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.

Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia.

Journal: Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences

Published: October 08, 2022

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.

Journal: Orphanet journal of rare diseases

Published: July 12, 2022

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.

Journal: Journal of medical genetics

Published: May 06, 2022

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.

Journal: Frontiers in genetics

Published: March 17, 2022

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.

Journal: Frontiers in genetics

Published: October 30, 2021

A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.

A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.

Journal: Molecular syndromology

Published: September 14, 2021

Analysis of six children with 3-methylglutaconic aciduria

Analysis of six children with 3-methylglutaconic aciduria

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

Published: August 02, 2021

Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.

Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.

Journal: Human mutation

Published: July 25, 2021

Showing 1-12 of 36

Last Updated: 09/26/2026