Publications by authors named "Didem Demirbas"

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The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy.
E Naomi Vos, Didem Demirbas, Lance Rodan, Edward Yang, Sanjay P Prabhu

Ann Child Neurol Soc· August 2025

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Multi-omic analysis of the ciliogenic transcription factor reveals a role in promoting activity-dependent responses via enhancing CREB binding in human neurons.
Jenny Lai, Didem Demirbas, Kaitlyn Phillips, Boxun Zhao, Harrison Wallace

bioRxiv· March 2025

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Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Bianca Panis, E Naomi Vos, Ivo Barić, Annet M Bosch, Martijn C G J Brouwers, Didem Demirbas

Front Genet· February 2024

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ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia.
Jenny Lai, Didem Demirbas, Junho Kim, Ailsa M Jeffries, Allie Tolles

Cell Rep· January 2024

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The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies.
E Naomi Vos, Didem Demirbas, Matthew Mangel, M Estela Rubio-Gozalbo, Harvey L Levy

Mol Genet Metab· November 2023

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The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, E Naomi Vos, Didem Demirbas

Hum Reprod Update· March 2023

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A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Quinton S Katler, Karolina M Stepien, Nathan Paull, Sneh Patel, Michael Adams, Didem Demirbas

J Inherit Metab Dis· November 2022

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Galactose epimerase deficiency: lessons from the GalNet registry.
Britt Derks, Didem Demirbas, Rodrigo R Arantes, Samantha Banford, Alberto B Burlina

Orphanet J Rare Dis· September 2022

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Transient developmental delays in infants with Duarte-2 variant galactosemia.
Susan E Waisbren, Catherine Tran, Didem Demirbas, Cynthia S Gubbels, Margaret Hsiao

Mol Genet Metab· February 2022

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[C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.
Can Ficicioglu, Didem Demirbas, Britt Derks, G Shashidhar Pai, David J Timson

JIMD Rep· May 2021

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Galactokinase deficiency: lessons from the GalNet registry.
M Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Möslinger, Didem Demirbas

Genet Med· January 2021

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The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation.
Gerard T Berry, Elizabeth D Blume, Ann Wessel, Tajinder Singh, Leah Hecht, Didem Demirbas

JIMD Rep· July 2020

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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene () causing pyruvate dehydrogenase complex deficiency.
Jirair K Bedoyan, Leah Hecht, Shulin Zhang, Stacey Tarrant, Ann Bergin, Didem Demirbas

JIMD Rep· July 2019

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The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
Didem Demirbas, Xiaoping Huang, Vikram Daesety, Susan Feenstra, Minela Haskovic

Mol Genet Metab· April 2019

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Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.
Didem Demirbas, David J Harris, Pamela H Arn, Xiaoping Huang, Susan E Waisbren

JIMD Rep· March 2019

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Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Didem Demirbas

Orphanet J Rare Dis· November 2018

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5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
Lance H Rodan, Wanshu Qi, Gregory S Ducker, Didem Demirbas, Regina Laine

Mol Genet Metab· September 2018

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Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea.
Naif A M Almontashiri, Didem Demirbas, Gerard T Berry, Roy W A Peake

Clin Chem· August 2018

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Hereditary galactosemia.
Didem Demirbas, Ana I Coelho, M Estela Rubio-Gozalbo, Gerard T Berry

Metabolism· June 2018

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Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine.
Didem Demirbas, William J Brucker, Gerard T Berry

Pediatr Clin North Am· April 2018

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Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
Xiaoping Huang, Jirair K Bedoyan, Didem Demirbas, David J Harris, Alexander Miron

Mol Genet Metab· March 2017

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A comparison of non-integrating reprogramming methods.
Thorsten M Schlaeger, Laurence Daheron, Thomas R Brickler, Samuel Entwisle, Karrie Chan, Didem Demirbas

Nat Biotechnol· January 2015

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A yeast-based chemical screen identifies a PDE inhibitor that elevates steroidogenesis in mouse Leydig cells via PDE8 and PDE4 inhibition.
Didem Demirbas, Arlene R Wyman, Masami Shimizu-Albergine, Ozgur Cakici, Joseph A Beavo

PLoS One· March 2014

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KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability.
Geoffrey W Abbott, Kwok-Keung Tai, Daniel L Neverisky, Alex Hansler, Zhaoyang Hu, Didem Demirbas

Sci Signal· March 2014

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A fission yeast-based platform for phosphodiesterase inhibitor HTSs and analyses of phosphodiesterase activity.
Didem Demirbas, Ozge Ceyhan, Arlene R Wyman, Charles S Hoffman

Handb Exp Pharmacol· September 2011

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