Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease

Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in the SLC19A3 gene. BTBGD presents with encephalopathy and significant disease progression when not treated with biotin and/or thiamine. We present a patient of Mexican and European ancestry d...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Metab Rep
Egile Nagusiak: Sremba, L.J., Chang, R.C., Elbalalesy, N.M., Cambray-Forker, E.J., Abdenur, J.E.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2014
Gaiak:
Short Communication
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121344/
https://ncbi.nlm.nih.gov/pubmed/27896110
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.07.008
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