Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

39 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
39 results