Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease
Author:
Publisher
Oxford University Press (OUP)
Subject
Neurology (clinical)
Reference7 articles.
1. Biotin-responsive basal ganglia disease: a treatable differential diagnosis of leigh syndrome;Distelmaier;JIMD Rep,2013
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3. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing;Haack;J Med Genet,2012
4. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy;Kevelam;Brain,2013
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1. Functional genomics and small molecules in mitochondrial neurodevelopmental disorders;Neurotherapeutics;2024-01
2. SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease;Arquivos de Neuro-Psiquiatria;2023-10-13
3. Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease;Neurology;2023-04-25
4. Leigh syndrome;Mitochondrial Diseases;2023
5. A Japanese patient with neonatal biotin-responsive basal ganglia disease;Human Genome Variation;2022-09-29
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