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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
J Inherit Metab Dis. 2019 Mar;42(2):353-361. doi: 10.1002/jimd.12045. Epub 2019 Feb 22.
J Inherit Metab Dis. 2019.
PMID: 30043187
Free PMC article.
Review.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM Jr, Coughlin CR 2nd, van Karnebeek CDM.
Tseng LA, et al. Among authors: aziz vg.
Mol Genet Metab. 2022 Apr;135(4):350-356. doi: 10.1016/j.ymgme.2022.02.005. Epub 2022 Feb 17.
Mol Genet Metab. 2022.
PMID: 35279367
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Associations between laterality of orofacial clefts and medical and academic outcomes.
Gallagher ER, Siebold B, Collett BR, Cox TC, Aziz V, Cunningham ML.
Gallagher ER, et al.
Am J Med Genet A. 2018 Feb;176(2):267-276. doi: 10.1002/ajmg.a.38567. Epub 2017 Dec 12.
Am J Med Genet A. 2018.
PMID: 29232056
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Associations between laterality of orofacial clefts and medical and academic outcomes.
Gallagher ER, Siebold B, Collett BR, Cox TC, Aziz V, Cunningham ML.
Gallagher ER, et al.
Am J Med Genet A. 2018 Apr;176(4):1037. doi: 10.1002/ajmg.a.38663.
Am J Med Genet A. 2018.
PMID: 29575621
No abstract available.
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