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Year | Number of Results |
---|---|
2011 | 1 |
2013 | 1 |
2014 | 1 |
2023 | 1 |
2024 | 0 |
PubMed (cited) for id: 614462
3 results
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Novel LIAS variants in a patient with epilepsy and profound developmental disabilities.
Mol Genet Metab. 2023 Mar;138(3):107373. doi: 10.1016/j.ymgme.2023.107373. Epub 2023 Jan 7.
Mol Genet Metab. 2023.
PMID: 36680912
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL.
Baker PR 2nd, et al.
Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11.
Brain. 2014.
PMID: 24334290
Free PMC article.
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Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W.
Mayr JA, et al.
Am J Hum Genet. 2011 Dec 9;89(6):792-7. doi: 10.1016/j.ajhg.2011.11.011.
Am J Hum Genet. 2011.
PMID: 22152680
Free PMC article.
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