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Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.
Zaki, M S; Issa, M Y; Elbendary, H M; El-Karaksy, H; Hosny, H; Ghobrial, C; El Safty, A; El-Hennawy, A; Oraby, A; Selim, L; Abdel-Hamid, M S.
Afiliación
  • Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
  • Issa MY; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt.
  • Elbendary HM; Medical Research Division, Child Health Department, National Research Centre, Cairo, Egypt.
  • El-Karaksy H; Pediatric Hepatology Department, Kasr Alainy Medical School, Cairo University, Cairo, Egypt.
  • Hosny H; Pediatric Neurology Department, National Institute of Neuromotor System, Cairo, Egypt.
  • Ghobrial C; Pediatric Hepatology Department, Kasr Alainy Medical School, Cairo University, Cairo, Egypt.
  • El Safty A; Department of Occupational and Environmental Medicine, Kasr Alainy Medical School, Cairo University, Egypt.
  • El-Hennawy A; Pathology Department, Kasr Alainy Medical School, Cairo University, Cairo, Egypt.
  • Oraby A; Pediatric Neurology Department, Kasr Alainy Medical School, Cairo University, Cairo, Egypt.
  • Selim L; Pediatric Neurology Department, Kasr Alainy Medical School, Cairo University, Cairo, Egypt.
  • Abdel-Hamid MS; Human Genetics and Genome Research Division, Medical Molecular Genetics Department, National Research Centre, Cairo, Egypt.
Clin Genet ; 93(4): 905-912, 2018 04.
Article en En | MEDLINE | ID: mdl-29193034
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Catión / Hígado / Enfermedades Metabólicas Tipo de estudio: Screening_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Africa Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Egipto
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Proteínas de Transporte de Catión / Hígado / Enfermedades Metabólicas Tipo de estudio: Screening_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Africa Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Egipto