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PubMed (GeneRIF) for id: 8818

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Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Radenkovic S, Fitzpatrick-Schmidt T, Byeon SK, Madugundu AK, Saraswat M, Lichty A, Wong SYW, McGee S, Kubiak K, Ligezka A, Ranatunga W, Zhang Y, Wood T, Friez MJ, Clarkson K, Pandey A, Jones JR, Morava E. Radenkovic S, et al. Mol Genet Metab. 2021 Jan;132(1):27-37. doi: 10.1016/j.ymgme.2020.10.007. Epub 2020 Oct 17. Mol Genet Metab. 2021. PMID: 33129689 Free PMC article.
Evaluation of Primary Angle-Closure Glaucoma Susceptibility Loci in Patients with Early Stages of Angle-Closure Disease.
Nongpiur ME, Cheng CY, Duvesh R, Vijayan S, Baskaran M, Khor CC, Allen J, Kavitha S, Venkatesh R, Goh D, Husain R, Boey PY, Quek D, Ho CL, Wong TT, Perera S, Wong TY, Krishnadas SR, Sundaresan P, Aung T, Vithana EN. Nongpiur ME, et al. Ophthalmology. 2018 May;125(5):664-670. doi: 10.1016/j.ophtha.2017.11.016. Epub 2018 Jan 6. Ophthalmology. 2018. PMID: 29310965
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. Barone R, et al. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632. Ann Neurol. 2012. PMID: 23109149