Associated Papers
Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application.
Tibelius A et al.
Genes, 2023
38137040 (PubMed )
Supplement: genes-14-02218-s001.zip › genes-2754842-supplementary.xlsx › S1
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
[Analysis of CGDH gene variants and clinical features in three patients with glutaric aciduria type Ⅰ].
Tan J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.
Qian GL et al.
World Journal of Pediatrics : Wjp, 2016
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
Tang NL et al.
Human Mutation, 2000
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