W. Qiu

发表

Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.

Y. Chien, W. Hwu, Jeongho Lee, 2014, JIMD reports.

[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency].

X. Gu, Jun Ye, L. Han, 2009, Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine].

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

X. Gu, Huiwen Zhang, Jun Ye, 2015, World Journal of Pediatrics.

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

X. Gu, Ya-fen Zhang, Huiwen Zhang, 2014, World Journal of Pediatrics.

[Application of succinylacetone levels measurement in the blood and urine in the diagnosis of tyrosinemia type 1].

X. Gu, Xiao-Yan Li, Huiwen Zhang, 2012, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].

X. Gu, Tong Wang, Ya-fen Zhang, 2009, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

[Molecular genetic analysis of congenital lipoid adrenal hyperplasia].

X. Gu, Jun Ye, L. Han, 2004, Zhonghua er ke za zhi = Chinese journal of pediatrics.

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

L. Liang, X. Gu, Huiwen Zhang, 2018, Acta Pharmacologica Sinica.

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

X. Gu, Huiwen Zhang, Jun Ye, 2015, World Journal of Pediatrics.

Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies.

X. Gu, Ya-fen Zhang, Huiwen Zhang, 2011, Molecular medicine reports.

[Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia].

X. Gu, Lanfang Cao, Tong Wang, 2010, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[Clinical and mutational study of a Chinese infant with isovaleric acidemia].

X. Gu, Huiwen Zhang, Jun Ye, 2008, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II].

X. Gu, Huiwen Zhang, Jun Ye, 2011, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

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

L. Liang, X. Gu, Huiwen Zhang, 2018, Acta Pharmacologica Sinica.

[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].

X. Gu, Xiao-Yan Li, Huiwen Zhang, 2013, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].

X. Gu, Yanling Yang, Ya-fen Zhang, 2009, Zhonghua er ke za zhi = Chinese journal of pediatrics.

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

X. Gu, Huiwen Zhang, Jun Ye, 2014, World Journal of Pediatrics.

[Clinical study of oral alendronate in the treatment of pediatric osteogenesis imperfecta].

X. Gu, Li Zhao, Jun Ye, 2012, Zhonghua yi xue za zhi.

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

X. Gu, Huiwen Zhang, Jun Ye, 2018, World Journal of Pediatrics.

[Gene mutation analysis in patients with propionic acidemia].

X. Gu, Li Liu, Yanling Yang, 2008, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test].

X. Gu, Jun Ye, L. Han, 2005, Zhonghua er ke za zhi = Chinese journal of pediatrics.

Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant

X. Gu, Huiwen Zhang, Jun Ye, 2015, Chinese medical journal.

[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders].

Yong-Jun Zhang, X. Gu, Jun Ye, 2007, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

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

L. Han, Haili Hu, X. Zhan, 2023, World journal of pediatrics : WJP.

Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis

X. Gu, Huiwen Zhang, Jun Ye, 2012, World Journal of Pediatrics.

[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency].

X. Gu, Huiwen Zhang, Jun Ye, 2010, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.