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Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28.
J Inherit Metab Dis. 2021.
PMID: 33295057
Free PMC article.
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.
Sremba LJ, Chang RC, Elbalalesy NM, Cambray-Forker EJ, Abdenur JE.
Sremba LJ, et al.
Mol Genet Metab Rep. 2014 Aug 28;1:368-372. doi: 10.1016/j.ymgmr.2014.07.008. eCollection 2014.
Mol Genet Metab Rep. 2014.
PMID: 27896110
Free PMC article.
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