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Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Aburezq, Maryam; Alahmad, Ahmad; Alsafi, Rasha; Al-Tawari, Asma; Ramadan, Dina; Shafik, Magdy; Abdelaty, Omar; Makhseed, Nawal; Elshafie, Reem; Ayed, Mariam; Hayat, Abrar; Dashti, Fatima; Marafi, Dana; Albash, Buthaina; Bastaki, Laila; Alsharhan, Hind.
Afiliação
  • Aburezq M; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.
  • Alahmad A; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.
  • Alsafi R; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.
  • Al-Tawari A; Department of Pediatrics, Al-Sabah Hospital, Ministry of Health, Shuwaikh, Kuwait.
  • Ramadan D; Department of Pediatrics, Al-Sabah Hospital, Ministry of Health, Shuwaikh, Kuwait.
  • Shafik M; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.
  • Abdelaty O; Department of Radiology, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.
  • Makhseed N; Department of Pediatrics, Al-Jahra Hospital, Ministry of Health, Al-Jahra, Kuwait.
  • Elshafie R; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.
  • Ayed M; Department of Neonatology, Maternity Hospital, Ministry of Health, Shuwaikh, Kuwait.
  • Hayat A; Department of Radiology, Adan Hospital, Ministry of Health, Hadiya, Kuwait.
  • Dashti F; Department of Radiology, Ibn Sina Hospital, Ministry of Health, Shuwaikh, Kuwait.
  • Marafi D; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.
  • Albash B; Department of Pediatrics, Faculty of Medicine, Health Sciences Centre, Kuwait University, P.O. Box 24923, Safat 13110, Postal Code 90805, Jabriya, Kuwait.
  • Bastaki L; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.
  • Alsharhan H; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.
Orphanet J Rare Dis ; 18(1): 271, 2023 09 05.
Article em En | MEDLINE | ID: mdl-37670342
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças dos Gânglios da Base / Encefalopatias / Distonia Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Adult / Child, preschool / Humans / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças dos Gânglios da Base / Encefalopatias / Distonia Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Adult / Child, preschool / Humans / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2023 Tipo de documento: Article