Publications by authors named "Maaike de Vries"

101Publications

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Authors:
Federica Conte Eva Morava Nurulamin Abu Bakar Saskia B Wortmann Anne Jonge Poerink Stephanie Grunewald Ellen Crushell Lihadh Al-Gazali Maaike C de Vries Lars Mørkrid Jozef Hertecant Katja S Brocke Holmefjord David Kronn Annette Feigenbaum Ralph Fingerhut Sunnie Y Wong Monique van Scherpenzeel Nicol C Voermans Dirk J Lefeber

Mol Genet Metab 2020 Sep - Oct;131(1-2):135-146. Epub 2020 Sep 17.

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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September 2020

COPD-derived fibroblasts secrete higher levels of senescence-associated secretory phenotype proteins.

Authors:
Roy R Woldhuis Irene H Heijink Maarten van den Berge Wim Timens Brian G G Oliver Maaike de Vries Corry-Anke Brandsma

Thorax 2020 Dec 3. Epub 2020 Dec 3.

Pathology and Medical Biology, University Medical Centre Groningen, Groningen, The Netherlands

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December 2020

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.

Authors:
Mendy M Welsink-Karssies Anouk Schrantee Matthan W A Caan Carla E M Hollak Mirian C H Janssen Esmee Oussoren Maaike C de Vries Stefan D Roosendaal Marc Engelen Annet M Bosch

Mol Genet Metab 2020 Dec 6;131(4):370-379. Epub 2020 Nov 6.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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December 2020

Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome".

Authors:
Laurence A Bindoff David A Brown Gráinne S Gorman Amel Karaa Nandaki Keshavan Constanza Lamperti Michelangelo Mancuso Robert McFarland Yi Shiau Ng Mar O'Callaghan Robert D S Pitceathly Shamima Rahman Frans G M Russel Tom J J Schirris Kristin N Varhaug Maaike C De Vries

J Inherit Metab Dis 2020 Nov 7. Epub 2020 Nov 7.

Radboudumc Amalia Children's Hospital, Radboud Center for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.

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November 2020

Genetic regulation of gene expression of MIF family members in lung tissue.

Authors:
Laura Florez-Sampedro Corry-Anke Brandsma Maaike de Vries Wim Timens Rene Bults Cornelis J Vermeulen Maarten van den Berge Ma'en Obeidat Philippe Joubert David C Nickle Gerrit J Poelarends Alen Faiz Barbro N Melgert

Sci Rep 2020 10 12;10(1):16980. Epub 2020 Oct 12.

Department of Molecular Pharmacology, Groningen Research Institute of Pharmacy (GRIP), University of Groningen, Groningen, The Netherlands.

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October 2020

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.

Authors:
Mendy M Welsink-Karssies Sacha Ferdinandusse Gert J Geurtsen Carla E M Hollak Hidde H Huidekoper Mirian C H Janssen Janneke G Langendonk Johanna H van der Lee Roisin O'Flaherty Kim J Oostrom Stefan D Roosendaal M Estela Rubio-Gozalbo Radka Saldova Eileen P Treacy Fred M Vaz Maaike C de Vries Marc Engelen Annet M Bosch

Brain Commun 2020 29;2(1):fcaa006. Epub 2020 Jan 29.

Division of Metabolic Disorders, Department of Pediatrics, Emma Children's Hospital, Amsterdam, UMC, University of Amsterdam, Amsterdam, the Netherlands.

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January 2020

Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Authors:
Sabine A Fuchs Imre F Schene Gautam Kok Jurriaan M Jansen Peter G J Nikkels Koen L I van Gassen Suzanne W J Terheggen-Lagro Saskia N van der Crabben Sanne E Hoeks Laetitia E M Niers Nicole I Wolf Maaike C de Vries David A Koolen Roderick H J Houwen Margot F Mulder Peter M van Hasselt

Genet Med 2020 Sep 15. Epub 2020 Sep 15.

Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

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September 2020

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Authors:
Mendy M Welsink-Karssies Kim J Oostrom Merel E Hermans Carla E M Hollak Mirian C H Janssen Janneke G Langendonk Esmee Oussoren M Estela Rubio Gozalbo Maaike de Vries Gert J Geurtsen Annet M Bosch

Orphanet J Rare Dis 2020 09 7;15(1):238. Epub 2020 Sep 7.

Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands.

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September 2020

Vulnerabilities for Drug Diversion in the Handling, Data Entry, and Verification Tasks of 2 Inpatient Hospital Pharmacies: Clinical Observations and Healthcare Failure Mode and Effect Analysis.

Authors:
Maaike de Vries Mark Fan Dorothy Tscheng Michael Hamilton Patricia Trbovich

J Patient Saf 2020 Jul 24. Epub 2020 Jul 24.

From the HumanEra, Research and Innovation, North York General Hospital.

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July 2020

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.

Authors:
Kevin Stroek Anita Boelen Marelle J Bouva Monique De Sain-van der Velden Peter C J I Schielen Rose Maase Henk Engel Bernadette Jakobs Leo A J Kluijtmans Margot F Mulder M E Rubio-Gozalbo Francjan J van Spronsen Gepke Visser Maaike C de Vries Monique Williams Annemieke C Heijboer Evelien A Kemper Annet M Bosch

JIMD Rep 2020 Jul 13;54(1):68-78. Epub 2020 May 13.

Department of Pediatrics, Division of Metabolic Disorders Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands.

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July 2020

A cross-omics integrative study of metabolic signatures of chronic obstructive pulmonary disease.

Authors:
Ivana Prokić Lies Lahousse Maaike de Vries Jun Liu Marita Kalaoja Judith M Vonk Diana A van der Plaat Cleo C van Diemen Ashley van der Spek Alexandra Zhernakova Jingyuan Fu Mohsen Ghanbari Mika Ala-Korpela Johannes Kettunen Aki S Havulinna Markus Perola Veikko Salomaa Lars Lind Johan Ärnlöv Bruno H C Stricker Guy G Brusselle H Marike Boezen Cornelia M van Duijn Najaf Amin

BMC Pulm Med 2020 Jul 16;20(1):193. Epub 2020 Jul 16.

Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.

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July 2020

Link between increased cellular senescence and extracellular matrix changes in COPD.

Authors:
Roy R Woldhuis Maaike de Vries Wim Timens Maarten van den Berge Marco Demaria Brian G G Oliver Irene H Heijink Corry-Anke Brandsma

Am J Physiol Lung Cell Mol Physiol 2020 07 27;319(1):L48-L60. Epub 2020 May 27.

Department of Pathology and Medical Biology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

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July 2020

A Penicillium rubens platform strain for secondary metabolite production.

Authors:
Carsten Pohl Fabiola Polli Tabea Schütze Annarita Viggiano László Mózsik Sascha Jung Maaike de Vries Roel A L Bovenberg Vera Meyer Arnold J M Driessen

Sci Rep 2020 05 6;10(1):7630. Epub 2020 May 6.

Molecular Microbiology, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, Groningen, The Netherlands.

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May 2020

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Authors:
Mendy M Welsink-Karssies Kim J Oostrom Merel E Hermans Carla E M Hollak Mirian C H Janssen Janneke G Langendonk Esmee Oussoren M Estela Rubio Gozalbo Maaike de Vries Gert J Geurtsen Annet M Bosch

Orphanet J Rare Dis 2020 02 7;15(1):42. Epub 2020 Feb 7.

Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands.

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February 2020

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.

Authors:
Maaike C De Vries David A Brown Mitchell E Allen Laurence Bindoff Gráinne S Gorman Amel Karaa Nandaki Keshavan Costanza Lamperti Robert McFarland Yi Shiau Ng Mar O'Callaghan Robert D S Pitceathly Shamima Rahman Frans G M Russel Kristin N Varhaug Tom J J Schirris Michelangelo Mancuso

J Inherit Metab Dis 2020 07 7;43(4):800-818. Epub 2020 Feb 7.

Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.

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July 2020

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Authors:
Daan M Panneman Saskia B Wortmann Charlotte A Haaxma Peter M van Hasselt Nicole I Wolf Yvonne Hendriks Benno Küsters Sjenet van Emst-de Vries Els van de Westerlo Werner J H Koopman Liesbeth Wintjes Frans van den Brandt Maaike de Vries Dirk J Lefeber Jan A M Smeitink Richard J Rodenburg

Clin Genet 2020 04 30;97(4):556-566. Epub 2020 Jan 30.

Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Nijmegen, the Netherlands.

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April 2020

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.

Authors:
Mendy M Welsink-Karssies Michel van Weeghel Carla E M Hollak Hyung L Elfrink Mirian C H Janssen Kent Lai Janneke G Langendonk Esmee Oussoren Jos P N Ruiter Eileen P Treacy Maaike de Vries Sacha Ferdinandusse Annet M Bosch

Mol Genet Metab 2020 03 9;129(3):171-176. Epub 2020 Jan 9.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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March 2020

Does the 48-hour BH4 loading test miss responsive PKU patients?

Authors:
Annemiek M J van Wegberg Roeland A F Evers Esther van Dam Maaike C de Vries Mirian C H Janssen M Rebecca Heiner-Fokkema Francjan J van Spronsen

Mol Genet Metab 2020 03 24;129(3):186-192. Epub 2019 Dec 24.

Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Centre Groningen, the Netherlands. Electronic address:

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March 2020

The 1- C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.

Authors:
Mendy M Welsink-Karssies Dewi van Harskamp Sacha Ferdinandusse Carla E M Hollak Hidde H Huidekoper Mirian C H Janssen E Marleen Kemper Janneke G Langendonk M Estela Rubio-Gozalbo Maaike C de Vries Frits A Wijburg Henk Schierbeek Annet M Bosch

J Inherit Metab Dis 2020 05 22;43(3):507-517. Epub 2020 Jan 22.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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May 2020

Comparative efficacy of opioids for older adults presenting to the emergency department with acute pain: Systematic review.

Authors:
Maaike de Vries Jonathan Gravel Daphne Horn Shelley McLeod Catherine Varner

Can Fam Physician 2019 Dec;65(12):e538-e543

Emergency physician at Mount Sinai Hospital, Clinician Investigator at the Schwartz/Reisman Emergency Medicine Institute at Sinai Health Systems, and Assistant Professor in the Department of Family and Community Medicine at the University of Toronto.

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December 2019