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Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Helman, Guy; Zerem, Ayelet; Almad, Akshata; Hacker, Julia L; Woidill, Sarah; Sase, Sunetra; LeFevre, Alexandra N; Ekstein, Josef; Johansson, Martin M; Stutterd, Chloe A; Taft, Ryan J; Simons, Cas; Grinspan, Judith B; Pizzino, Amy; Schmidt, Johanna L; Harding, Brian; Hirsch, Yoel; Viaene, Angela N; Fattal-Valevski, Aviva; Vanderver, Adeline.
Afiliação
  • Helman G; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
  • Zerem A; Pediatric Neurology Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.
  • Almad A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Hacker JL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Woidill S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Sase S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • LeFevre AN; University of Maryland Brain and Tissue Bank, Baltimore, Maryland.
  • Ekstein J; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York.
  • Johansson MM; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York.
  • Stutterd CA; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Taft RJ; Illumina Inc., San Diego, California.
  • Simons C; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
  • Grinspan JB; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Schmidt JL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Harding B; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Hirsch Y; Dor Yeshorim, Committee for Prevention of Jewish Genetic Diseases, Brooklyn, New York.
  • Viaene AN; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
  • Fattal-Valevski A; Pediatric Neurology Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.
  • Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: vandervera@email.chop.edu.
Pediatr Neurol ; 121: 11-19, 2021 08.
Article em En | MEDLINE | ID: mdl-34111619
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central Idioma: En Ano de publicação: 2021 Tipo de documento: Article