Wen-juan Qiu

No. 1665 Kongjiang Road
Shanghai, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 23 publications

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.

Journal: World journal of pediatrics : WJP

Published: November 25, 2022

Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia.

Application of isoxanthopterin as a new pterin marker in the differential diagnosis of hyperphenylalaninemia.

Journal: World journal of pediatrics : WJP

Published: March 16, 2018

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Journal: Acta pharmacologica Sinica

Published: December 05, 2017

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant.

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant.

Journal: Chinese medical journal

Published: November 03, 2015

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.

Journal: World journal of pediatrics : WJP

Published: April 19, 2015

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.

Journal: World journal of pediatrics : WJP

Published: March 11, 2015

Risk factors for postoperative delirium in patients after coronary artery bypass grafting: A prospective cohort study.

Risk factors for postoperative delirium in patients after coronary artery bypass grafting: A prospective cohort study.

Journal: Journal of critical care

Published: November 13, 2014

Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

Journal: World journal of pediatrics : WJP

Published: December 23, 2013

Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA

Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA

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

Published: October 15, 2013

QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.

QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.

Journal: World journal of pediatrics : WJP

Published: October 12, 2013

Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency

Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: October 01, 2013

Diagnosis and treatment of isolated methylmalonic acidemia

Diagnosis and treatment of isolated methylmalonic acidemia

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: October 01, 2013

Showing 1-12 of 23

Last Updated: 09/26/2026