Biotin-thiamine-responsive Basal Ganglia Disease
What's New
Last Posted: Mar 04, 2023
- Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Alfadhel Majid, et al. Annals of clinical and translational neurology 2019 0 (10) 2097-2103 - [Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease].
Gao Min, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (2) 162-165 - SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
Mir Ali, et al. Human genetics 2021 0 (1) 81-99 - Biotin-thiamine-responsive basal ganglia disease
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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