Publications by authors named "Serwet Demirdas"

12Publications

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.

Metabolites 2019 Nov 26;9(12). Epub 2019 Nov 26.

Center for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.

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http://dx.doi.org/10.3390/metabo9120289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950026PMC
November 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy.

Circ Genom Precis Med 2019 03;12(3):e002395

Department of Clinical Genetics (S.D., M.A. v. S, M.L., M.W.W., G.J.S.), Sophia Children's Hospital, Erasmus Medical Centre, Erasmus University, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1161/CIRCGEN.118.002395DOI Listing
March 2019

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".

Ann Nutr Metab 2018 16;72(1):80-81. Epub 2018 Jan 16.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1159/000486185DOI Listing
August 2019

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

Ann Nutr Metab 2017 24;70(2):111-121. Epub 2017 Mar 24.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1159/000465529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516403PMC
March 2018

Bone health in phenylketonuria: a systematic review and meta-analysis.

Orphanet J Rare Dis 2015 Feb 15;10:17. Epub 2015 Feb 15.

Metabolic Nutrition and Genetics Program Department of Human Genetics, Emory University Atlanta GA United States, Atlanta, GA, USA.

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http://dx.doi.org/10.1186/s13023-015-0232-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340652PMC
February 2015

An infant with orange-colored urine.

Pediatr Nephrol 2010 Feb 21;25(2):381. Epub 2009 Oct 21.

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http://dx.doi.org/10.1007/s00467-009-1333-4DOI Listing
February 2010