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Expanding the clinical phenotype of COG6 deficiency.
Haijes H, Prinsen HC, Thiel C, Koerner C, Verhoeven-Duif NM, van Hasselt PM. Haijes H, et al. J Med Genet. 2014 Jun;51(6):425. doi: 10.1136/jmedgenet-2014-102329. Epub 2014 Mar 25. J Med Genet. 2014. PMID: 24667119 No abstract available.
Key features and clinical variability of COG6-CDG.
Rymen D, Winter J, Van Hasselt PM, Jaeken J, Kasapkara C, Gokçay G, Haijes H, Goyens P, Tokatli A, Thiel C, Bartsch O, Hecht J, Krawitz P, Prinsen HC, Mildenberger E, Matthijs G, Kornak U. Rymen D, et al. Among authors: haijes h. Mol Genet Metab. 2015 Nov;116(3):163-70. doi: 10.1016/j.ymgme.2015.07.003. Epub 2015 Jul 29. Mol Genet Metab. 2015. PMID: 26260076
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
Veldman BCF, Kuper WFE, Lilien M, Schuurs-Hoeijmakers JHM, Marcelis C, Phan M, Hettinga Y, Talsma HE, van Hasselt PM, Haijes HA. Veldman BCF, et al. Among authors: haijes ha. Am J Med Genet A. 2021 Jul;185(7):2204-2210. doi: 10.1002/ajmg.a.62225. Epub 2021 May 3. Am J Med Genet A. 2021. PMID: 33938610 Free PMC article.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Mol Genet Metab. 2019 Aug;127(4):368-372. doi: 10.1016/j.ymgme.2019.07.001. Epub 2019 Jul 9. Mol Genet Metab. 2019. PMID: 31311714
19 results