Associated Papers
Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.
Xiao D et al.
Frontiers in Genetics, 2024
39076170 (PubMed )
Supplement: Table1.DOCX
Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.
Chen ZP et al.
Nature Communications, 2022
35676282 (PubMed )
Supplement: 41467_2022_30974_MOESM1_ESM.pdf
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up.
Matteson J et al.
International Journal of Neonatal Screening, 2021
33920672 (PubMed )
Supplement: IJNS-07-00022-s001.zip › IJNS-1144684-SI.xlsx › Supplemental_Table_-_Variants
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