Rubio-Gozalbo, M. E.; Haskovic, M.; Bosch, A. M.; Burnyte, B.; Coelho, A. I.; Cassiman, D.; Couce, M. L.; Dawson, C.; Demirbas, D.; Derks, T.; Eyskens, F.; Forga, M. T.; Grunewald, S.; Haberle, J.; Hochuli, M.; Hubert, A.; Huidekoper, H. H.; Janeiro, P.; Kotzka, J.; Knerr, I.; Labrune, P.; Landau, Y. E.; Langendonk, J. G.; Moeslinger, D.; Mueller-Wieland, D.; Murphy, E.; Ounap, K.; Ramadza, D.; Rivera, I. A.; Scholl-Buergi, S.; Stepien, K. M.; Thijs, A.; Tran, C.; Vara, R.; Visser, G.; Vos, R.; de Vries, M.; Waisbren, S. E.; Welsink-Karssies, M. M.; Wortmann, S. B.; Gautschi, M.; Treacy, E. P.; Berry, G. T.

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-04-0111

PREAI

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

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-11-2612

OAAI

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-09-0116

OAAI

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

CLINICAL CHEMISTRY

IF6.3

2018-08-011

OAAI

Hereditary galactosemia

METABOLISM-CLINICAL AND EXPERIMENTAL

IF11.9

2018-06-0177

PREAI

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2017-03-0116

OAAI

A comparison of non-integrating reprogramming methods

NATURE BIOTECHNOLOGY

IF41.7

2014-12-01407

OAAI

Schlaeger, Thorsten M.; Daheron, Laurence; Brickler, Thomas R.; Entwisle, Samuel; Chan, Karrie; Cianci, Amelia; DeVine, Alexander; Ettenger, Andrew; Fitzgerald, Kelly; Godfrey, Michelle; Gupta, Dipti; McPherson, Jade; Malwadkar, Prerana; Gupta, Manav; Bell, Blair; Doi, Akiko; Jung, Namyoung; Li, Xin; Lynes, Maureen S.; Brookes, Emily; Cherry, Anne B. C.; Demirbas, Didem; Tsankov, Alexander M.; Zon, Leonard I.; Rubin, Lee L.; Feinberg, Andrew P.; Meissner, Alexander; Cowan, Chad A.; Daley, George Q.

KCNQ1, KCNE2, and Na+-Coupled Solute Transporters Form Reciprocally Regulating Complexes That Affect Neuronal Excitability

SCIENCE SIGNALING

IF6.6

2014-03-0463

OAAI

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

使用粟酒裂殖酵母PKA可抑制的报告基因研究cGMP代谢磷酸二酯酶

CELLULAR SIGNALLING

IF3.7

2011-03-0119

Didem Demirbas

个人简介

教育背景

工作经历

荣誉奖项

研究方向