Associated Papers
Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features.
Diogo R et al.
Cureus, 2023
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Jira PE et al.
Annals of Human Genetics, 2003
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