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Paper Details

Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease.
Mol Genet Metab
0
2023
ACADS, ACADS gene, ACADS variants, Arg171Trp, CV, Gly209Ser, SCADD, Short-chain acyl CoA dehydrogenase, Short-chain acyl CoA dehydrogenase deficiency, acyl CoA, behavioral disorders, c., c.625G, disorder of fatty, epilepsy, exome sequence, fatty acid, fatty liver, hypoglycemia, intellectual disability, metabolic acidosis, metabolic disease, muscle weakness, participants, patient, rare pathogenic variants, seizure disorders
Author NameAffiliation
Eimear E KennyIcahn School of Medicine at Mount Sinai, USA Institute for Genomic Health
Eimear E KennyIcahn School of Medicine at Mount Sinai, USA Institute for Genomic Health
Noura S Abul-HusnIcahn School of Medicine at Mount Sinai, USA Institute for Genomic Health, USA 23andMe Inc.
Noura S Abul-HusnIcahn School of Medicine at Mount Sinai, USA Institute for Genomic Health, USA 23andMe Inc.
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