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
Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.
Salman DO et al.
Frontiers in Genetics, 2022
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.
Kılavuz S et al.
Neuropediatrics, 2021
Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.
Schmiesing J et al.
Human Molecular Genetics, 2017
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
Christensen E et al.
Journal of Inherited Metabolic Disease, 2004
Select a paper to view details