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Biotin-Thiamine-Responsive Basal Ganglia Disease in Children: A Treatable Neurometabolic Disorder
Biotin-thiamine-responsive basal ganglia disease is a rare, autosomal recessive, treatable, neurometabolic disorder associated with biallelic pathogenic variations in the SLC19A3 gene. The condition may present as an early-childhood encephalopathy, an early-infantile lethal encephalopathy with lacti...
Uloženo v:
| Vydáno v: | Ann Indian Acad Neurol |
|---|---|
| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wolters Kluwer - Medknow
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8232498/ https://ncbi.nlm.nih.gov/pubmed/34220059 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_952_20 |
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