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1.
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
Mol Genet Metab
; 115(4): 161-7, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-26026795
2.
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.
Mol Genet Metab Rep
; 1: 368-372, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-27896110
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