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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.

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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Aburezq+M%22">Aburezq M</searchLink>; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alahmad+A%22">Alahmad A</searchLink>; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alsafi+R%22">Alsafi R</searchLink>; Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.<br /><searchLink fieldCode="AU" term="%22Al-Tawari+A%22">Al-Tawari A</searchLink>; Department of Pediatrics, Al-Sabah Hospital, Ministry of Health, Shuwaikh, Kuwait.<br /><searchLink fieldCode="AU" term="%22Ramadan+D%22">Ramadan D</searchLink>; Department of Pediatrics, Al-Sabah Hospital, Ministry of Health, Shuwaikh, Kuwait.<br /><searchLink fieldCode="AU" term="%22Shafik+M%22">Shafik M</searchLink>; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.<br /><searchLink fieldCode="AU" term="%22Abdelaty+O%22">Abdelaty O</searchLink>; Department of Radiology, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.<br /><searchLink fieldCode="AU" term="%22Makhseed+N%22">Makhseed N</searchLink>; Department of Pediatrics, Al-Jahra Hospital, Ministry of Health, Al-Jahra, Kuwait.<br /><searchLink fieldCode="AU" term="%22Elshafie+R%22">Elshafie R</searchLink>; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Ayed+M%22">Ayed M</searchLink>; Department of Neonatology, Maternity Hospital, Ministry of Health, Shuwaikh, Kuwait.<br /><searchLink fieldCode="AU" term="%22Hayat+A%22">Hayat A</searchLink>; Department of Radiology, Adan Hospital, Ministry of Health, Hadiya, Kuwait.<br /><searchLink fieldCode="AU" term="%22Dashti+F%22">Dashti F</searchLink>; Department of Radiology, Ibn Sina Hospital, Ministry of Health, Shuwaikh, Kuwait.<br /><searchLink fieldCode="AU" term="%22Marafi+D%22">Marafi D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Albash+B%22">Albash B</searchLink>; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Bastaki+L%22">Bastaki L</searchLink>; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.<br /><searchLink fieldCode="AU" term="%22Alsharhan+H%22">Alsharhan H</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2023 Sep 05; Vol. 18 (1), pp. 271. <i>Date of Electronic Publication: </i>2023 Sep 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s13023-023-02888-y
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        Text: English
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        StartPage: 271
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      – TitleFull: 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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