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Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Bali, Deeksha S; Goldstein, Jennifer L; Fredrickson, Keri; Rehder, Catherine; Boney, Anne; Austin, Stephanie; Weinstein, David A; Lutz, Richard; Boneh, Avihu; Kishnani, Priya S.
Afiliação
  • Bali DS; Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA. Electronic address: dbali@duke.edu.
  • Goldstein JL; Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA. Electronic address: jennifer.goldstein@duke.edu.
  • Fredrickson K; Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA. Electronic address: keri.boyette@dm.duke.edu.
  • Rehder C; Clinical Molecular Diagnostic Laboratory, 4425 Ben Franklin Blvd, Duke University Health System, Durham, NC 27704, USA. Electronic address: catherine.rehder@duke.edu.
  • Boney A; Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA. Electronic address: anne.boney@dm.duke.edu.
  • Austin S; Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA. Electronic address: stephanie.austin@duke.edu.
  • Weinstein DA; Glycogen Storage Disease Program, PO Box 100296, University of Florida College of Medicine, Gainesville, FL 32610, USA. Electronic address: weinsda@peds.ufl.edu.
  • Lutz R; University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics & Rehabilitation, 985440 Nebraska Medical Center, USA. Electronic address: rlutz@unmc.edu.
  • Boneh A; Metabolic Genetics, Victorian Clinical Genetics Services, The Murdoch Children's Research Institute, Royal Children's Hospital Melbourne, Department of Paediatrics, University of Melbourne, Flemington Road, Parkville 3052, Australia. Electronic address: avihu.boneh@vcgs.org.au.
  • Kishnani PS; Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA. Electronic address: kishn001@mc.duke.edu.
Mol Genet Metab ; 111(3): 309-313, 2014 Mar.
Article em En | MEDLINE | ID: mdl-24389071
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosforilase Quinase / Fígado Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosforilase Quinase / Fígado Idioma: En Ano de publicação: 2014 Tipo de documento: Article