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Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Bibi, Farah; Ullah, Asmat; Bourinaris, Thomas; Efthymiou, Stephanie; Kriouile, Yamna; Sultan, Tipu; Haider, Shahzad; Salpietro, Vincenzo; Houlden, Henry; Kaukab Raja, Ghazala.
Afiliação
  • Bibi F; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.
  • Ullah A; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
  • Bourinaris T; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Kriouile Y; Unit of Neuropediatrics and Neurometabolism, Pediatric Department, Mohammed V University of Rabat, Morocco.
  • Sultan T; The Children's Hospital, Institute of Child Health, Islamabad, Pakistan.
  • Haider S; Izzat Ali Shah Hospital, Lalarukh Wah Cantt, Rawalpindi, Pakistan.
  • Salpietro V; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Kaukab Raja G; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi, Pakistan.
Klin Padiatr ; 233(5): 226-230, 2021 Sep.
Article em En | MEDLINE | ID: mdl-33831955
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Tay-Sachs / Hexosaminidase A Tipo de estudo: Prognostic_studies Limite: Female / Humans País/Região como assunto: Africa / Asia Idioma: En Revista: Klin Padiatr Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Paquistão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Tay-Sachs / Hexosaminidase A Tipo de estudo: Prognostic_studies Limite: Female / Humans País/Região como assunto: Africa / Asia Idioma: En Revista: Klin Padiatr Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Paquistão