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
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data.
Yuan Y et al.
Journal of Inherited Metabolic Disease, 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
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
Pokora P et al.
Metabolic Brain Disease, 2019
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.
Boy N et al.
Orphanet Journal of Rare Diseases, 2017
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
Kölker S et al.
Pediatric Research, 2007
Mutation analysis in glutaric aciduria type I.
Zschocke J et al.
Journal of Medical Genetics, 2000
Neonatal screening for glutaric aciduria type I: strategies to proceed.
Lindner M et al.
Journal of Inherited Metabolic Disease, 0
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