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Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Bowser, Lauren E; Young, Millie; Wenger, Olivia K; Ammous, Zineb; Brigatti, Karlla W; Carson, Vincent J; Moser, Teresa; Deline, James; Aoki, Kazuhiro; Morlet, Thierry; Scott, Ethan M; Puffenberger, Erik G; Robinson, Donna L; Hendrickson, Christine; Salvin, Jonathan; Gottlieb, Steven; Heaps, Adam D; Tiemeyer, Michael; Strauss, Kevin A.
Afiliação
  • Bowser LE; Clinic for Special Children, Strasburg, PA, USA.
  • Young M; Clinic for Special Children, Strasburg, PA, USA.
  • Wenger OK; New Leaf Center, Mount Eaton, OH, USA.
  • Ammous Z; Community Health Clinic, Topeka, IN, USA.
  • Brigatti KW; Clinic for Special Children, Strasburg, PA, USA.
  • Carson VJ; Clinic for Special Children, Strasburg, PA, USA.
  • Moser T; Community Health Clinic, Topeka, IN, USA.
  • Deline J; Center for Special Children, La Farge, WI, USA.
  • Aoki K; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA.
  • Morlet T; Auditory Physiology and Psychoacoustics Research Laboratory, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Scott EM; Department of Pediatrics, Akron Children's Hospital, Akron, OH, USA.
  • Puffenberger EG; Clinic for Special Children, Strasburg, PA, USA.
  • Robinson DL; Clinic for Special Children, Strasburg, PA, USA.
  • Hendrickson C; Clinic for Special Children, Strasburg, PA, USA.
  • Salvin J; Division of Pediatric Ophthalmology, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Gottlieb S; Division of Pediatric Neurology, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Heaps AD; Clinic for Special Children, Strasburg, PA, USA.
  • Tiemeyer M; Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA.
  • Strauss KA; Clinic for Special Children, Strasburg, PA, USA. Electronic address: kstrauss@clinicforspecialchildren.org.
Mol Genet Metab ; 126(4): 475-488, 2019 04.
Article em En | MEDLINE | ID: mdl-30691927
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sialiltransferases / Epilepsia / Gangliosídeos Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: America do norte Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2019 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: Sialiltransferases / Epilepsia / Gangliosídeos Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: America do norte Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos