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Molecular Genetics and Metabolism Reports|November 30, 2016

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia diseaseL J Sremba, R C Chang, N M Elbalalesy, et al.

Molecular Genetics and Metabolism|June 1, 2015

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's diseaseAshlee R Stiles, Sacha Ferdinandusse, Arnaud Besse, et al.

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Molecular Genetics and Metabolism Reports|November 30, 2016

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia diseaseL J Sremba, R C Chang, N M Elbalalesy, et al.

Molecular Genetics and Metabolism|June 1, 2015

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's diseaseAshlee R Stiles, Sacha Ferdinandusse, Arnaud Besse, et al.

Pageof 1