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Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation.
Huang, Wei-Lin; Steenari, Maija R; Barrick, Rebekah; Simon, Mariella T; Chang, Richard; Eftekharian, Shaya S; Stover, Alexander; Schwartz, Philip H; Latini, Alexandra; Abdenur, Jose E.
Afiliação
  • Huang WL; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
  • Steenari MR; Division of Neurology, CHOC Children's, Orange, CA, United States.
  • Barrick R; Department of Pediatrics, University of California Irvine, Orange, CA, United States.
  • Simon MT; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
  • Chang R; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
  • Eftekharian SS; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
  • Stover A; Department of Pediatrics, University of California Irvine, Orange, CA, United States.
  • Schwartz PH; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
  • Latini A; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
  • Abdenur JE; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
Mol Genet Metab Rep ; 38: 101025, 2024 Mar.
Article em En | MEDLINE | ID: mdl-38125072
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos