Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening
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DOI: 10.1002/acn3.50898
Abstract: 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… read more here.
Keywords: saudi newborn; sequencing 3000; slc19a3 gene; 3000 saudi ... See more keywords