Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
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| Title: | Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants. |
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| Authors: | 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.; Department of Pediatrics, Faculty of Medicine, Health Sciences Centre, Kuwait University, P.O. Box 24923, Safat 13110, Postal Code 90805, Jabriya, Kuwait., Albash B; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait., Bastaki L; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait., Alsharhan H; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait. Hind.alsharhan@ku.edu.kw.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait. Hind.alsharhan@ku.edu.kw.; Department of Pediatrics, Faculty of Medicine, Health Sciences Centre, Kuwait University, P.O. Box 24923, Safat 13110, Postal Code 90805, Jabriya, Kuwait. Hind.alsharhan@ku.edu.kw.; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Hind.alsharhan@ku.edu.kw. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Sep 05; Vol. 18 (1), pp. 271. Date of Electronic Publication: 2023 Sep 05. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-023-02888-y |
