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Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.
Marshall, Randall D; Collins, Abigail; Escolar, Maria L; Jinnah, H A; Klopstock, Thomas; Kruer, Michael C; Videnovic, Aleksandar; Robichaux-Viehoever, Amy; Burns, Colleen; Swett, Laura L; Revicki, Dennis A; Bender, Randall H; Lenderking, William R.
Afiliação
  • Marshall RD; Formerly Retrophin, Inc., San Diego, CA, USA.
  • Collins A; Departments of Pediatrics and Neurology, University of Colorado, School of Medicine, Denver, CO, USA.
  • Escolar ML; Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
  • Jinnah HA; Departments of Neurology and Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
  • Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University of Munich, Munich, Germany.
  • Kruer MC; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
  • Videnovic A; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
  • Robichaux-Viehoever A; Barrow Neurological Institute, Phoenix Children's Hospital, University of Arizona College of Medicine, Phoenix, AZ, USA.
  • Burns C; Department of Neurology, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA.
  • Swett LL; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
  • Revicki DA; Retrophin, Inc., 3721 Valley Centre Drive, Suite 200, San Diego, CA, 92130, USA. colleen.burns@retrophin.com.
  • Bender RH; Evidera, Inc, Bethesda, MD, USA.
  • Lenderking WR; Evidera, Inc, Bethesda, MD, USA.
Orphanet J Rare Dis ; 14(1): 174, 2019 07 12.
Article em En | MEDLINE | ID: mdl-31300018
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neurodegeneração Associada a Pantotenato-Quinase Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA 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: Neurodegeneração Associada a Pantotenato-Quinase Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos