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Items: 23

1.

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT.

JIMD Rep. 2019 Jun 17;48(1):26-35. doi: 10.1002/jmd2.12054. eCollection 2019 Jul.

2.

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT.

JIMD Rep. 2019 Mar 14;46(1):63-69. doi: 10.1002/jmd2.12018. eCollection 2019 Mar.

3.

The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT.

Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z.

4.

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT.

Mol Genet Metab. 2019 Apr;126(4):368-376. doi: 10.1016/j.ymgme.2019.01.016. Epub 2019 Jan 22.

PMID:
30718057
5.

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI.

Orphanet J Rare Dis. 2018 Nov 26;13(1):212. doi: 10.1186/s13023-018-0954-8.

6.

Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea.

Almontashiri NAM, Demirbas D, Berry GT, Peake RWA.

Clin Chem. 2018 Aug;64(8):1260-1262. doi: 10.1373/clinchem.2018.291146. No abstract available.

7.

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).

Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15.

8.

Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.

Demirbas D, Brucker WJ, Berry GT.

Pediatr Clin North Am. 2018 Apr;65(2):337-352. doi: 10.1016/j.pcl.2017.11.008. Review.

PMID:
29502917
9.

Hereditary galactosemia.

Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT.

Metabolism. 2018 Jun;83:188-196. doi: 10.1016/j.metabol.2018.01.025. Epub 2018 Jan 31. Review.

PMID:
29409891
10.

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.

Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT.

Mol Genet Metab. 2017 Mar;120(3):213-222. doi: 10.1016/j.ymgme.2016.11.005. Epub 2016 Nov 12.

11.

A comparison of non-integrating reprogramming methods.

Schlaeger TM, Daheron L, Brickler TR, Entwisle S, Chan K, Cianci A, DeVine A, Ettenger A, Fitzgerald K, Godfrey M, Gupta D, McPherson J, Malwadkar P, Gupta M, Bell B, Doi A, Jung N, Li X, Lynes MS, Brookes E, Cherry AB, Demirbas D, Tsankov AM, Zon LI, Rubin LL, Feinberg AP, Meissner A, Cowan CA, Daley GQ.

Nat Biotechnol. 2015 Jan;33(1):58-63. doi: 10.1038/nbt.3070. Epub 2014 Dec 1.

12.

KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability.

Abbott GW, Tai KK, Neverisky DL, Hansler A, Hu Z, Roepke TK, Lerner DJ, Chen Q, Liu L, Zupan B, Toth M, Haynes R, Huang X, Demirbas D, Buccafusca R, Gross SS, Kanda VA, Berry GT.

Sci Signal. 2014 Mar 4;7(315):ra22. doi: 10.1126/scisignal.2005025.

13.

A yeast-based chemical screen identifies a PDE inhibitor that elevates steroidogenesis in mouse Leydig cells via PDE8 and PDE4 inhibition.

Demirbas D, Wyman AR, Shimizu-Albergine M, Cakici O, Beavo JA, Hoffman CS.

PLoS One. 2013 Aug 14;8(8):e71279. doi: 10.1371/journal.pone.0071279. eCollection 2013.

14.

Magnetic dipole and higher pole interaction on a square lattice.

Ewerlin M, Demirbas D, Brüssing F, Petracic O, Ünal AA, Valencia S, Kronast F, Zabel H.

Phys Rev Lett. 2013 Apr 26;110(17):177209. Epub 2013 Apr 26.

PMID:
23679771
15.

Use of rhinomanometry in common rhinologic disorders.

Demirbas D, Cingi C, Cakli H, Kaya E.

Expert Rev Med Devices. 2011 Nov;8(6):769-77. doi: 10.1586/erd.11.45. Review.

PMID:
22029472
16.

Nasal polyposis: an overview of differential diagnosis and treatment.

Cingi C, Demirbas D, Ural A.

Recent Pat Inflamm Allergy Drug Discov. 2011 Sep;5(3):241-52. Review.

PMID:
21834752
17.

[Endonasal phototherapy in the treatment of allergic rhinitis].

Demirbaş D, Aksoy E, Polat S, Serin G, Unal OF, Tanyeri H.

Kulak Burun Bogaz Ihtis Derg. 2011 Jul-Aug;21(4):198-203. doi: 10.5606/kbbihtisas.2011.026. Turkish.

PMID:
21762049
18.

A fission yeast-based platform for phosphodiesterase inhibitor HTSs and analyses of phosphodiesterase activity.

Demirbas D, Ceyhan O, Wyman AR, Hoffman CS.

Handb Exp Pharmacol. 2011;(204):135-49. doi: 10.1007/978-3-642-17969-3_5. Review.

19.

Bilateral acquired external auditory canal stenosis with squamous papilloma: a case report.

Demirbaş D, Dağlı M, Göçer C.

Kulak Burun Bogaz Ihtis Derg. 2011 Jan-Feb;21(1):42-5.

PMID:
21303316
20.

Use of a Schizosaccharomyces pombe PKA-repressible reporter to study cGMP metabolising phosphodiesterases.

Demirbas D, Ceyhan O, Wyman AR, Ivey FD, Allain C, Wang L, Sharuk MN, Francis SH, Hoffman CS.

Cell Signal. 2011 Mar;23(3):594-601. doi: 10.1016/j.cellsig.2010.11.013. Epub 2010 Nov 29.

21.

Allergic rhinitis caused by food allergies.

Cingi C, Demirbas D, Songu M.

Eur Arch Otorhinolaryngol. 2010 Sep;267(9):1327-35. doi: 10.1007/s00405-010-1280-5. Epub 2010 May 20. Review.

PMID:
20490817
22.

New classes of PDE7 inhibitors identified by a fission yeast-based HTS.

Alaamery MA, Wyman AR, Ivey FD, Allain C, Demirbas D, Wang L, Ceyhan O, Hoffman CS.

J Biomol Screen. 2010 Apr;15(4):359-67. doi: 10.1177/1087057110362100. Epub 2010 Mar 12.

23.

Development of a fission yeast-based high-throughput screen to identify chemical regulators of cAMP phosphodiesterases.

Ivey FD, Wang L, Demirbas D, Allain C, Hoffman CS.

J Biomol Screen. 2008 Jan;13(1):62-71. doi: 10.1177/1087057107312127.

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