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Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
Kurolap, Alina; Armbruster, Anja; Hershkovitz, Tova; Hauf, Katharina; Mory, Adi; Paperna, Tamar; Hannappel, Ewald; Tal, Galit; Nijem, Yusif; Sella, Ella; Mahajnah, Muhammad; Ilivitzki, Anat; Hershkovitz, Dov; Ekhilevitch, Nina; Mandel, Hanna; Eulenburg, Volker; Baris, Hagit N.
Afiliação
  • Kurolap A; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel.
  • Armbruster A; Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen 91054, Germany.
  • Hershkovitz T; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Hauf K; Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen 91054, Germany.
  • Mory A; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Hannappel E; Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen 91054, Germany.
  • Tal G; Metabolic Unit, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Nijem Y; Pediatric and Neonatal Unit, EMMS Nazareth Hospital, Nazareth 1607907, Israel.
  • Sella E; Pediatric and Neonatal Unit, EMMS Nazareth Hospital, Nazareth 1607907, Israel.
  • Mahajnah M; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel; Child Neurology and Development Center, Hillel Yaffe Medical Center, Hadera 3810101, Israel.
  • Ilivitzki A; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel; Pediatric Radiology Unit, Radiology Department, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Hershkovitz D; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel; Department of Pathology, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Ekhilevitch N; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel.
  • Mandel H; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel; Metabolic Unit, Rambam Health Care Campus, Haifa 3109601, Israel.
  • Eulenburg V; Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen 91054, Germany. Electronic address: volker.eulenburg@fau.de.
  • Baris HN; The Genetics Institute, Rambam Health Care Campus, Haifa 3109601, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa 3525433, Israel. Electronic address: hb_feldman@rambam.health.gov.il.
Am J Hum Genet ; 99(5): 1172-1180, 2016 Nov 03.
Article em En | MEDLINE | ID: mdl-27773429
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Hiperglicinemia não Cetótica / Proteínas da Membrana Plasmática de Transporte de Glicina / Glicina Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Israel
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Hiperglicinemia não Cetótica / Proteínas da Membrana Plasmática de Transporte de Glicina / Glicina Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies Limite: Animals / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Israel