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
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
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
Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.
Qian GL et al.
World Journal of Pediatrics : Wjp, 2016
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients.
Gupta N et al.
Jimd Reports, 2015
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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