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Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Colonna, Maxwell B; Moss, Tonya; Mokashi, Sneha; Srikanth, Sujata; Jones, Julie R; Foley, Jackson R; Skinner, Cindy; Lichty, Angie; Kocur, Anthony; Wood, Tim; Stewart, Tracy Murray; Casero, Robert A; Flanagan-Steet, Heather; Edison, Arthur S; Lyons, Michael J; Steet, Richard.
Afiliação
  • Colonna MB; Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.
  • Moss T; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Mokashi S; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Srikanth S; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Jones JR; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Foley JR; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine; Baltimore, MD 21287, USA.
  • Skinner C; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Lichty A; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Kocur A; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Wood T; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.
  • Stewart TM; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine; Baltimore, MD 21287, USA.
  • Casero RA; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine; Baltimore, MD 21287, USA.
  • Flanagan-Steet H; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Edison AS; Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.
  • Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Steet R; Greenwood Genetic Center, Greenwood, SC 29646, USA.
Hum Mol Genet ; 32(5): 732-744, 2023 02 19.
Article em En | MEDLINE | ID: mdl-36067040
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cútis Laxa / Aminoácidos Idioma: En Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cútis Laxa / Aminoácidos Idioma: En Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos