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
Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
Guo Z et al.
Molecular Genetics and Genomics : Mgg, 2023
Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma.
Foran J et al.
Jimd Reports, 2021
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
Kurkina MV et al.
Metabolic Brain Disease, 2020
Is Expanded Newborn Screening Adequate to Detect Indian Biochemical Low Excretor Phenotype Patients of Glutaric Aciduria Type I?
Shaik M et al.
Indian Journal of Pediatrics, 2019
Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.
Tp KV et al.
Journal of Pediatric Genetics, 2017
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
Radha Rama Devi A et al.
Brain & Development, 2016
A Low-Excretor Biochemical Phenotype of Glutaric Aciduria Type I: Identification of Novel Mutations in the Glutaryl CoA Dehydrogenase Gene and Review of Literature from India.
Shaik M et al.
Annals of Indian Academy of Neurology, 0
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