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CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
Al-Abdi, Lama; Al Murshedi, Fathiya; Elmanzalawy, Alaa; Al Habsi, Asila; Helaby, Rana; Ganesh, Anuradha; Ibrahim, Niema; Patel, Nisha; Alkuraya, Fowzan S.
Afiliación
  • Al-Abdi L; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al Murshedi F; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.
  • Elmanzalawy A; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
  • Al Habsi A; Department of Radiology and Molecular Imaging, Sultan Qaboos University Hospital, Muscat, Oman.
  • Helaby R; Department of Nursing, Sultan Qaboos University, Muscat, Oman.
  • Ganesh A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Ibrahim N; Department of Ophthalmology, Sultan Qaboos University, Muscat, Oman.
  • Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hum Genet ; 139(5): 615-622, 2020 May.
Article en En | MEDLINE | ID: mdl-32128616
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Índice de Severidad de la Enfermedad / Enfermedad de Pelizaeus-Merzbacher / 2',3'-Nucleótido Cíclico 3'-Fosfodiesterasa / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Arabia Saudita
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Índice de Severidad de la Enfermedad / Enfermedad de Pelizaeus-Merzbacher / 2',3'-Nucleótido Cíclico 3'-Fosfodiesterasa / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Arabia Saudita