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Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening
BACKGROUND: Biotin–thiamine‐responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neurore...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801173/ https://www.ncbi.nlm.nih.gov/pubmed/31557427 http://dx.doi.org/10.1002/acn3.50898 |