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The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation.
Berry GT, Blume ED, Wessel A, Singh T, Hecht L, Marsden D, Sahai I, Elisofon S, Ferguson M, Kim HB, Harris DJ, Demirbas D, Almuqbil M, Nyhan WL. Berry GT, et al. Among authors: demirbas d. JIMD Rep. 2020 Apr 8;54(1):3-8. doi: 10.1002/jmd2.12119. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685343 Free PMC article.
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT; Undiagnosed Diseases Network (UDN). Rodan LH, et al. Among authors: demirbas d. Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15. Mol Genet Metab. 2018. PMID: 30031689 Free PMC article.
Galactokinase deficiency: lessons from the GalNet registry.
Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT. Rubio-Gozalbo ME, et al. Among authors: demirbas d. Genet Med. 2021 Jan;23(1):202-210. doi: 10.1038/s41436-020-00942-9. Epub 2020 Aug 18. Genet Med. 2021. PMID: 32807972 Free PMC article.
Hereditary galactosemia.
Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Demirbas D, et al. Metabolism. 2018 Jun;83:188-196. doi: 10.1016/j.metabol.2018.01.025. Epub 2018 Jan 31. Metabolism. 2018. PMID: 29409891 Review.
41 results