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Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia.
Tsai, Anne Chun-Hui; Lin, Hsin-Ti; Chou, Maxwell; Bolen, Jessica; Zimmerman, Chelsea; DeMarzo, Danielle; Enchautegui-Colon, Yazmin.
Afiliación
  • Tsai AC; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
  • Lin HT; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
  • Chou M; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
  • Bolen J; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
  • Zimmerman C; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
  • DeMarzo D; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
  • Enchautegui-Colon Y; Section of Genetics, Department of Pediatrics, University of Oklahoma Health sciences Center, Oklahoma Children's Hospital, Oklahoma City, OK, United States of America.
Mol Genet Metab Rep ; 31: 100859, 2022 Jun.
Article en En | MEDLINE | ID: mdl-35782626
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos