Associated Papers
Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.
Qu R et al.
Frontiers in Neurology, 2025
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.
Weber Hoss GR et al.
Molecular Genetics & Genomic Medicine, 2020
32232970 (PubMed )
Supplement: MGG3-8-e1214-s001.docx
[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].
Feng LF et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
Li DX et al.
World Journal of Pediatrics : Wjp, 2018
Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.
Gong B et al.
Scientific Reports, 2015
Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase.
Wei Q et al.
Proteins, 2010
[Association of plasma homocysteine and cystathionine beta-synthase polymorphism with cerebral thrombosis].
Shao Y et al.
Di 1 Jun Yi Da Xue Xue Bao = Academic Journal of the First Medical College of Pla, 2005
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