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
Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Schuurmans IME et al.
Journal of Inherited Metabolic Disease, 2023
Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1.
Boy N et al.
Journal of Inherited Metabolic Disease, 2018
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
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
Heringer J et al.
Annals of Neurology, 2010
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
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