Publications by authors named "Mariska Davids"

28Publications

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

Mol Genet Metab 2020 05 10;130(1):49-57. Epub 2020 Feb 10.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303973PMC
May 2020

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Mol Genet Metab 2019 Sep - Oct;128(1-2):151-161. Epub 2019 Aug 14.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.08.003DOI Listing
April 2020

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Am J Hum Genet 2019 06 30;104(6):1127-1138. Epub 2019 May 30.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562152PMC
June 2019

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Mol Genet Metab 2019 02 3;126(2):188-195. Epub 2018 Dec 3.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.001DOI Listing
February 2019

Glycomics in rare diseases: from diagnosis tomechanism.

Transl Res 2019 04 23;206:5-17. Epub 2018 Oct 23.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19315244183018
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http://dx.doi.org/10.1016/j.trsl.2018.10.005DOI Listing
April 2019

Cover Image, Volume 173A, Number 12, December 2017.

Am J Med Genet A 2017 Dec;173(12)

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38548DOI Listing
December 2017

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685896PMC
December 2017

Abnormal glycosylation in Joubert syndrome type 10.

Cilia 2017 23;6. Epub 2017 Mar 23.

NIH Undiagnosed Disease Program, Common Fund, Office of the Director, and National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA.

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http://dx.doi.org/10.1186/s13630-017-0048-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364566PMC
March 2017

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Am J Hum Genet 2017 Jan 22;100(1):128-137. Epub 2016 Dec 22.

Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223093PMC
January 2017

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

J Med Genet 2016 Mar 14;53(3):180-9. Epub 2015 Dec 14.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland, USA Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535303PMC
March 2016

Nutrition before, during, and after surgery increases the arginine:asymmetric dimethylarginine ratio and relates to improved myocardial glucose metabolism: a randomized controlled trial.

Am J Clin Nutr 2014 Jun 2;99(6):1440-9. Epub 2014 Apr 2.

From the Departments of Surgery (MV, WW, and PAMvL), Clinical Chemistry (MD and TT), and Epidemiology and Biostatistics (MAJ), VU University Medical Center, Amsterdam, Netherlands, and the Departments of Cardio-thoracic Surgery (MV, RC, and BAJMdM), Nuclear Medicine (HJV), Cardiology (WEMK), and Pharmacy (EMK) and the Intensive Care Unit (RT), Academic Medical Center University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.3945/ajcn.113.075473DOI Listing
June 2014

Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency.

FASEB J 2014 Jun 14;28(6):2686-95. Epub 2014 Feb 14.

Institute for Medicines and Pharmaceutical Sciences (iMed.UL) and Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon, Portugal;

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http://dx.doi.org/10.1096/fj.13-246579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021445PMC
June 2014

Plasma concentrations of arginine and asymmetric dimethylarginine do not reflect their intracellular concentrations in peripheral blood mononuclear cells.

Metabolism 2013 Oct 25;62(10):1455-61. Epub 2013 Jul 25.

Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands; Institute for Cardiovascular Research (ICaR-VU), VU University Medical Center, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S00260495130017
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http://dx.doi.org/10.1016/j.metabol.2013.05.017DOI Listing
October 2013

L-Homoarginine and L-arginine are antagonistically related to blood pressure in an elderly population: the Hoorn study.

J Hypertens 2013 Jun;31(6):1114-23

Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1007 MB Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/HJH.0b013e32836037fbDOI Listing
June 2013

Measurement of nitric oxide-related amino acids in serum and plasma: effects of blood clotting and type of anticoagulant.

Clin Chim Acta 2013 Jun 19;421:164-7. Epub 2013 Mar 19.

Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.cca.2013.03.009DOI Listing
June 2013

Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine.

FEBS Lett 2012 Oct 29;586(20):3653-7. Epub 2012 Aug 29.

Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1016/j.febslet.2012.08.020
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http://dx.doi.org/10.1016/j.febslet.2012.08.020DOI Listing
October 2012

Simultaneous determination of asymmetric and symmetric dimethylarginine, L-monomethylarginine, L-arginine, and L-homoarginine in biological samples using stable isotope dilution liquid chromatography tandem mass spectrometry.

J Chromatogr B Analyt Technol Biomed Life Sci 2012 Jul 26;900:38-47. Epub 2012 May 26.

Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jchromb.2012.05.025DOI Listing
July 2012

Role of the human erythrocyte in generation and storage of asymmetric dimethylarginine.

Am J Physiol Heart Circ Physiol 2012 Apr 24;302(8):H1762-70. Epub 2012 Feb 24.

Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1152/ajpheart.01205.2011DOI Listing
April 2012

Role of dimethylarginine dimethylaminohydrolase activity in regulation of tissue and plasma concentrations of asymmetric dimethylarginine in an animal model of prolonged critical illness.

Metabolism 2012 Apr 13;61(4):482-90. Epub 2011 Oct 13.

Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, PO Box 7057, 1007MB Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.metabol.2011.08.007DOI Listing
April 2012

The role of asymmetric dimethylarginine and arginine in the failing heart and its vasculature.

Eur J Heart Fail 2010 Dec 5;12(12):1274-81. Epub 2010 Oct 5.

Department of Surgery, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/eurjhf/hfq158DOI Listing
December 2010