Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants

Abstract Background Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with confusion, convulsions, dysphagia, dysarthria, or...

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Päätekijät:	Maryam Aburezq, Ahmad Alahmad, Rasha Alsafi, Asma Al-Tawari, Dina Ramadan, Magdy Shafik, Omar Abdelaty, Nawal Makhseed, Reem Elshafie, Mariam Ayed, Abrar Hayat, Fatima Dashti, Dana Marafi, Buthaina Albash, Laila Bastaki, Hind Alsharhan
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	BMC 2023-09-01
Sarja:	Orphanet Journal of Rare Diseases
Aiheet:	Biotin-thiamine-responsive Basal ganglia SLC19A3 Neurometabolic Encephalopathy Genetic
Linkit:	https://doi.org/10.1186/s13023-023-02888-y
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