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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

Majid AlfadhelBrahim Tabarki

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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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Basal Ganglia
Biotin
Confusion
Cessation of Life
DNA
Leigh Disease
Neonatal Screening
Pilot Projects
Dystonia Disorders
Disorder Characterized by Fever
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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

Majid AlfadhelBrahim Tabarki

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

Mentioned in this Paper

Basal Ganglia
Biotin
Confusion
Cessation of Life
DNA

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