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Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review
Solute carrier family 19 (thiamine transporter), member 3 (SCL19A3) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms. One of the common presentations is early infantile lethal Leigh-like syndrome. We report a case of early infan...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5661663/ https://www.ncbi.nlm.nih.gov/pubmed/29123435 http://dx.doi.org/10.1177/1179573517737521 |