Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening
Oct 26, 2019
PMID: 31557427
DOI: 10.1002/acn3.50898
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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 neuror...read more
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Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening
Annals of Clinical and Translational Neurology
Oct 26, 2019
PMID: 31557427
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 neuror...read more
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