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Two patients with Canavan disease and structural modeling of a novel mutation.
Zaki, Osama K; Krishnamoorthy, Navaneethakrishnan; El Abd, Heba S; Harche, Soumaya A; Mattar, Reem A; Al Disi, Rana S; Nofal, Mariam Y; El Bekay, Rajaa; Ahmed, Khalid A; George Priya Doss, C; Zayed, Hatem.
Afiliación
  • Zaki OK; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams University Hospital, Cairo, 11665, Egypt. ozaki@med.asu.edu.eg.
  • Krishnamoorthy N; Division of Experimental Genetics, Sidra Medical and Research Centre, Qatar Foundation, Doha, Qatar.
  • El Abd HS; Heart Science Centre, National Heart and Lung Institute, Imperial College London, Harefield, UK.
  • Harche SA; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams University Hospital, Cairo, 11665, Egypt.
  • Mattar RA; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar.
  • Al Disi RS; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar.
  • Nofal MY; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar.
  • El Bekay R; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar.
  • Ahmed KA; Laboratory of Biomedical Research, Virgen de la Victoria Clinical University Hospital, 29010, Málaga, Spain.
  • George Priya Doss C; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams University Hospital, Cairo, 11665, Egypt.
  • Zayed H; Department of Integrative Biology, School of Biosciences and Technology, VIT- University, Vellore, India.
Metab Brain Dis ; 32(1): 171-177, 2017 02.
Article en En | MEDLINE | ID: mdl-27531131
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Modelos Moleculares / Enfermedad de Canavan / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2017 Tipo del documento: Article País de afiliación: Egipto Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Modelos Moleculares / Enfermedad de Canavan / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2017 Tipo del documento: Article País de afiliación: Egipto Pais de publicación: Estados Unidos