D Demirbas

Affiliations

Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Publications (15)

Galactokinase deficiency: lessons from the GalNet registry.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: M Estela Rubio-Gozalbo , Britt Derks , Anibh Martin Das , Uta Meyer , Dorothea Möslinger , M Luz Couce , Aurélie Empain , Can Ficicioglu , Natalia Juliá Palacios , Mariela M De Los Santos De Pelegrin , Isabel A Rivera , Sabine Scholl-Bürgi , Annet M Bosch , David Cassiman , Didem Demirbas , Matthias Gautschi , Ina Knerr , Philippe Labrune , Anastasia Skouma , Patrick Verloo , Saskia B Wortmann , Eileen P Treacy , David J Timson , Gerard T Berry

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

Orphanet journal of rare diseases

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

ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia.

Cell reports

Avec: Jenny Lai , Didem Demirbas , Junho Kim , Ailsa M Jeffries , Allie Tolles , Junseok Park , Thomas W Chittenden , Patrick G Buckley , Timothy W Yu , Michael A Lodato , Eunjung Alice Lee

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

Journal of inherited metabolic disease

Avec: Quinton S Katler , Karolina M Stepien , Nathan Paull , Sneh Patel , Michael Adams , Mehmet Cihan Balci , Gerard T Berry , Annet M Bosch , Angela DeLaO , Didem Demirbas , Julianna Edman , Can Ficicioglu , Melanie Goff , Stephanie Hacker , Ina Knerr , Kristen Lancaster , Hong Li , Bryce A Mendelsohn , Brandi Nichols , Wladimir Bocca Vieira de Rezende Pinto , Júlio César Rocha , M Estela Rubio-Gozalbo , Michael Saad-Naguib , Sabine Scholl-Buergi , Sarah Searcy , Paulo Victor Sgobbi de Souza , Angela Wittenauer , Judith L Fridovich-Keil

Galactose epimerase deficiency: lessons from the GalNet registry.

Orphanet journal of rare diseases

Avec: Britt Derks , Didem Demirbas , Rodrigo R Arantes , Samantha Banford , Alberto B Burlina , Analía Cabrera , Ana Chiesa , M Luz Couce , Carlo Dionisi-Vici , Matthias Gautschi , Stephanie Grünewald , Eva Morava , Dorothea Möslinger , Sabine Scholl-Bürgi , Anastasia Skouma , Karolina M Stepien , David J Timson , Gerard T Berry , M Estela Rubio-Gozalbo

Asymmetric counteranion-directed photoredox catalysis.

Science (New York, N.Y.)

Avec: Sayantani Das , Chendan Zhu , Derya Demirbas , Eckhard Bill , Chandra Kanta De , Benjamin List

The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation.

JIMD reports

Avec: Gerard T Berry , Elizabeth D Blume , Ann Wessel , Tajinder Singh , Leah Hecht , Deborah Marsden , Inderneel Sahai , Scott Elisofon , Michael Ferguson , Heung Bae Kim , David J Harris , Didem Demirbas , Mohammed Almuqbil , William L Nyhan

Systematic Variation of 3d Metal Centers in a Redox-Innocent Ligand Environment: Structures, Electrochemical Properties, and Carbon Dioxide Activation.

Inorganic chemistry

Avec: Niklas W Kinzel , Derya Demirbas , Eckhard Bill , Thomas Weyhermüller , Christophe Werlé , Nicolas Kaeffer , Walter Leitner

The hypergonadotropic hypogonadism conundrum of classic galactosemia.

Human reproduction update

Avec: Britt Derks , Greysha Rivera-Cruz , Synneva Hagen-Lillevik , E Naomi Vos , Didem Demirbas , Kent Lai , Eileen P Treacy , Harvey L Levy , Louise E Wilkins-Haug , M Estela Rubio-Gozalbo , Gerard T Berry

Mechanocatalytic Synthesis of Ammonia: State of the Catalyst During Reaction and Deactivation Pathway.

Angewandte Chemie (International ed. in English)

Avec: Steffen Reichle , Liqun Kang , Derya Demirbas , Claudia Weidenthaler , Michael Felderhoff , Serena DeBeer , Ferdi Schüth

Brain function in classic galactosemia, a galactosemia network (GalNet) members review.

Frontiers in genetics

Avec: Bianca Panis , E Naomi Vos , Ivo Barić , Annet M Bosch , Martijn C G J Brouwers , Alberto Burlina , David Cassiman , David J Coman , María L Couce , Anibh M Das , Didem Demirbas , Aurélie Empain , Matthias Gautschi , Olga Grafakou , Stephanie Grunewald , Sandra D K Kingma , Ina Knerr , Elisa Leão-Teles , Dorothea Möslinger , Elaine Murphy , Katrin Õunap , Adriana Pané , Sabrina Paci , Rossella Parini , Isabel A Rivera , Sabine Scholl-Bürgi , Ida V D Schwartz , Triantafyllia Sdogou , Loai A Shakerdi , Anastasia Skouma , Karolina M Stepien , Eileen P Treacy , Susan Waisbren , Gerard T Berry , M Estela Rubio-Gozalbo

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

JIMD reports

Avec: Didem Demirbas , David J Harris , Pamela H Arn , Xiaoping Huang , Susan E Waisbren , Irina Anselm , Jordan P Lerner-Ellis , Lee-Jun Wong , Harvey L Levy , Gerard T Berry

Fibrosis scores that can be used in follow-up of after direct-acting antiviral treatment: APRI, FIB-4, King score and GUCI.

European journal of gastroenterology & hepatology

Avec: Ceren Atasoy Tahtasakal , Ahsen Oncul , Dilek Yildiz Sevgi , Duygu Demirbas , Alper Gunduz , Ilyas Dokmetas

Transient developmental delays in infants with Duarte-2 variant galactosemia.

Molecular genetics and metabolism

Avec: Susan E Waisbren , Catherine Tran , Didem Demirbas , Cynthia S Gubbels , Margaret Hsiao , Vikram Daesety , Gerard T Berry

Synthesis of Fe

Angewandte Chemie (International ed. in English)

Avec: Charafa Souilah , Sergio A V Jannuzzi , Derya Demirbas , Sergei Ivlev , Marcel Swart , Serena DeBeer , Alicia Casitas

Réseau de co-auteurs

Didem Demirbas 9 collaborations

Gerard T Berry 8 collaborations

M Estela Rubio-Gozalbo 5 collaborations

Derya Demirbas 4 collaborations

Britt Derks 3 collaborations

Dorothea Möslinger 3 collaborations

Sabine Scholl-Bürgi 3 collaborations

Annet M Bosch 3 collaborations

Matthias Gautschi 3 collaborations

Ina Knerr 3 collaborations

Anastasia Skouma 3 collaborations

Eileen P Treacy 3 collaborations

Karolina M Stepien 3 collaborations

M Luz Couce 2 collaborations

Aurélie Empain 2 collaborations

Can Ficicioglu 2 collaborations

Isabel A Rivera 2 collaborations

David Cassiman 2 collaborations

David J Timson 2 collaborations

Eckhard Bill 2 collaborations

David J Harris 2 collaborations

E Naomi Vos 2 collaborations

Harvey L Levy 2 collaborations

Serena DeBeer 2 collaborations

Susan E Waisbren 2 collaborations

Anibh Martin Das 1 collaboration

Uta Meyer 1 collaboration

Natalia Juliá Palacios 1 collaboration

Mariela M De Los Santos De Pelegrin 1 collaboration

Philippe Labrune 1 collaboration

Patrick Verloo 1 collaboration

Saskia B Wortmann 1 collaboration

M E Rubio-Gozalbo 1 collaboration

M Haskovic 1 collaboration

A M Bosch 1 collaboration

B Burnyte 1 collaboration

A I Coelho 1 collaboration

D Cassiman 1 collaboration

M L Couce 1 collaboration

C Dawson 1 collaboration

T Derks 1 collaboration

F Eyskens 1 collaboration

M T Forga 1 collaboration

S Grunewald 1 collaboration

J Häberle 1 collaboration

M Hochuli 1 collaboration

A Hubert 1 collaboration

H H Huidekoper 1 collaboration

P Janeiro 1 collaboration

J Kotzka 1 collaboration

I Knerr 1 collaboration

P Labrune 1 collaboration

Y E Landau 1 collaboration

J G Langendonk 1 collaboration

D Möslinger 1 collaboration

D Müller-Wieland 1 collaboration

E Murphy 1 collaboration

K Õunap 1 collaboration

D Ramadza 1 collaboration

I A Rivera 1 collaboration

S Scholl-Buergi 1 collaboration

K M Stepien 1 collaboration

A Thijs 1 collaboration

C Tran 1 collaboration

R Vara 1 collaboration

G Visser 1 collaboration

R Vos 1 collaboration

M de Vries 1 collaboration

S E Waisbren 1 collaboration

M M Welsink-Karssies 1 collaboration

S B Wortmann 1 collaboration

M Gautschi 1 collaboration

E P Treacy 1 collaboration

G T Berry 1 collaboration

Jenny Lai 1 collaboration

Junho Kim 1 collaboration

Ailsa M Jeffries 1 collaboration

Allie Tolles 1 collaboration

Junseok Park 1 collaboration

Thomas W Chittenden 1 collaboration

Patrick G Buckley 1 collaboration

Timothy W Yu 1 collaboration

Michael A Lodato 1 collaboration

Eunjung Alice Lee 1 collaboration

Quinton S Katler 1 collaboration

Nathan Paull 1 collaboration

Sneh Patel 1 collaboration

Michael Adams 1 collaboration

Mehmet Cihan Balci 1 collaboration

Angela DeLaO 1 collaboration

Julianna Edman 1 collaboration

Melanie Goff 1 collaboration

Stephanie Hacker 1 collaboration

Kristen Lancaster 1 collaboration

Hong Li 1 collaboration

Bryce A Mendelsohn 1 collaboration

Brandi Nichols 1 collaboration

Wladimir Bocca Vieira de Rezende Pinto 1 collaboration

Júlio César Rocha 1 collaboration

Michael Saad-Naguib 1 collaboration

Sabine Scholl-Buergi 1 collaboration

Sarah Searcy 1 collaboration

Paulo Victor Sgobbi de Souza 1 collaboration

Angela Wittenauer 1 collaboration

Judith L Fridovich-Keil 1 collaboration

Rodrigo R Arantes 1 collaboration

Samantha Banford 1 collaboration

Alberto B Burlina 1 collaboration

Analía Cabrera 1 collaboration

Ana Chiesa 1 collaboration

Carlo Dionisi-Vici 1 collaboration

Stephanie Grünewald 1 collaboration

Eva Morava 1 collaboration

Sayantani Das 1 collaboration

Chendan Zhu 1 collaboration

Chandra Kanta De 1 collaboration

Benjamin List 1 collaboration

Elizabeth D Blume 1 collaboration

Ann Wessel 1 collaboration

Tajinder Singh 1 collaboration

Leah Hecht 1 collaboration

Deborah Marsden 1 collaboration

Inderneel Sahai 1 collaboration

Scott Elisofon 1 collaboration

Michael Ferguson 1 collaboration

Heung Bae Kim 1 collaboration

Mohammed Almuqbil 1 collaboration

William L Nyhan 1 collaboration

Niklas W Kinzel 1 collaboration

Thomas Weyhermüller 1 collaboration

Christophe Werlé 1 collaboration

Nicolas Kaeffer 1 collaboration

Walter Leitner 1 collaboration

Greysha Rivera-Cruz 1 collaboration

Synneva Hagen-Lillevik 1 collaboration

Kent Lai 1 collaboration

Louise E Wilkins-Haug 1 collaboration

Steffen Reichle 1 collaboration

Liqun Kang 1 collaboration

Claudia Weidenthaler 1 collaboration

Michael Felderhoff 1 collaboration

Ferdi Schüth 1 collaboration

Bianca Panis 1 collaboration

Ivo Barić 1 collaboration

Martijn C G J Brouwers 1 collaboration

Alberto Burlina 1 collaboration

David J Coman 1 collaboration

María L Couce 1 collaboration

Anibh M Das 1 collaboration

Olga Grafakou 1 collaboration

Stephanie Grunewald 1 collaboration

Sandra D K Kingma 1 collaboration

Elisa Leão-Teles 1 collaboration

Elaine Murphy 1 collaboration

Katrin Õunap 1 collaboration

Adriana Pané 1 collaboration

Sabrina Paci 1 collaboration

Rossella Parini 1 collaboration

Ida V D Schwartz 1 collaboration

Triantafyllia Sdogou 1 collaboration

Loai A Shakerdi 1 collaboration

Susan Waisbren 1 collaboration

Pamela H Arn 1 collaboration

Xiaoping Huang 1 collaboration

Irina Anselm 1 collaboration

Jordan P Lerner-Ellis 1 collaboration

Lee-Jun Wong 1 collaboration

Ceren Atasoy Tahtasakal 1 collaboration

Ahsen Oncul 1 collaboration

Dilek Yildiz Sevgi 1 collaboration

Duygu Demirbas 1 collaboration

Alper Gunduz 1 collaboration

Ilyas Dokmetas 1 collaboration

Catherine Tran 1 collaboration

Cynthia S Gubbels 1 collaboration

Margaret Hsiao 1 collaboration

Vikram Daesety 1 collaboration

Charafa Souilah 1 collaboration

Sergio A V Jannuzzi 1 collaboration

Sergei Ivlev 1 collaboration

Marcel Swart 1 collaboration

Alicia Casitas 1 collaboration