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Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Mahmoud, Iman G; Elmonem, Mohamed A; Elkhateeb, Nour M; Elnaggar, Walaa; Sobhi, Ahmed; Girgis, Marian Y; Kamel, Mona; Shaheen, Yara; Samaha, Mona; Ramadan, Areef; Zaki, Maha S; El-Hawary, Bahaa; Hassan, Sawsan A; Khalifa, Iman A; Mossad, Fawzya; Al-Menabawy, Nihal M; Zielke, Susanne; Gleeson, Joseph G; Rolfs, Arndt; Selim, Laila A.
Afiliação
  • Mahmoud IG; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Elmonem MA; Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt.
  • Elkhateeb NM; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Elnaggar W; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Sobhi A; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Girgis MY; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Kamel M; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Shaheen Y; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Samaha M; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Ramadan A; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Zaki MS; Clinical Genetics Department, National Research Centre, Cairo, Egypt.
  • El-Hawary B; Pediatrics Department, Aswan University, Aswan, Egypt.
  • Hassan SA; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Khalifa IA; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Mossad F; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Al-Menabawy NM; Pediatric Neurology Department, Cairo University, Cairo, Egypt.
  • Zielke S; Albrecht-Kossel-Institute for Neurodegeneration, Rostock University Medical Centre, Rostock, Germany.
  • Gleeson JG; Centogene AG, Rostock, Germany.
  • Rolfs A; Neuroscience Department, Howard Hughes Medical Institute, University of California, San Diego, California.
  • Selim LA; Albrecht-Kossel-Institute for Neurodegeneration, Rostock University Medical Centre, Rostock, Germany.
Clin Genet ; 95(4): 537-539, 2019 04.
Article em En | MEDLINE | ID: mdl-30633340
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Biomarcadores / Peptídeos e Proteínas de Sinalização Intracelular / Doença de Niemann-Pick Tipo C / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Africa Idioma: En Revista: Clin Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Egito
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Biomarcadores / Peptídeos e Proteínas de Sinalização Intracelular / Doença de Niemann-Pick Tipo C / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Africa Idioma: En Revista: Clin Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Egito