Judith J Jans

Judith J Jans

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Judith J Jans

Judith J Jans

Publications by authors named "Judith J Jans"

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Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.

Biochim Biophys Acta Gen Subj 2020 Mar 14;1864(3):129484. Epub 2019 Nov 14.

Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3584, CX, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, 3584, CX, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2019.129484DOI Listing
March 2020

Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.

Biochim Biophys Acta Mol Basis Dis 2020 Mar 21;1866(3):165607. Epub 2019 Nov 21.

Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands; Center for Molecular Medicine, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2019.165607DOI Listing
March 2020

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.

Mol Genet Metab Rep 2020 Mar 27;22:100551. Epub 2019 Dec 27.

Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938934PMC
March 2020

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.

Int J Mol Sci 2020 Feb 1;21(3). Epub 2020 Feb 1.

Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.3390/ijms21030979DOI Listing
February 2020

Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.

J Inherit Metab Dis 2020 Jan 28. Epub 2020 Jan 28.

Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, Netherlands.

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http://dx.doi.org/10.1002/jimd.12219DOI Listing
January 2020

Inborn errors of enzymes in glutamate metabolism.

J Inherit Metab Dis 2019 Oct 11. Epub 2019 Oct 11.

Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.

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http://dx.doi.org/10.1002/jimd.12180DOI Listing
October 2019

Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics.

Metabolites 2019 Oct 18;9(10). Epub 2019 Oct 18.

Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.3390/metabo9100236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835587PMC
October 2019

Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies.

J Inherit Metab Dis 2019 Sep 9;42(5):745-761. Epub 2019 Jul 9.

Section Metabolic Diagnostics, Department of Biomedical Genetics, Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12128DOI Listing
September 2019

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications.

J Inherit Metab Dis 2019 Sep 7;42(5):730-744. Epub 2019 Aug 7.

Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12129
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http://dx.doi.org/10.1002/jimd.12129DOI Listing
September 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

N Engl J Med 2019 09;381(12):1185

University Medical Center Utrecht, Utrecht, the Netherlands

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http://dx.doi.org/10.1056/NEJMc1907427DOI Listing
September 2019

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.

Mol Genet Metab 2019 08 9;127(4):368-372. Epub 2019 Jul 9.

Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.07.001DOI Listing
August 2019

Discovery of pyridoxal reductase activity as part of human vitamin B6 metabolism.

Biochim Biophys Acta Gen Subj 2019 06 27;1863(6):1088-1097. Epub 2019 Mar 27.

Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2019.03.019DOI Listing
June 2019

Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid.

Mol Genet Metab 2019 05 15;127(1):51-57. Epub 2019 Mar 15.

Section Metabolic Diagnostics, Department of Biomedical Genetics, Centre for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.03.005DOI Listing
May 2019

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.

Metabolites 2019 Jan 11;9(1). Epub 2019 Jan 11.

Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.3390/metabo9010012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359237PMC
January 2019

The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma.

Genes (Basel) 2018 Dec 22;10(1). Epub 2018 Dec 22.

Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles (UCLA), Los Angeles, CA 90095, USA.

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http://www.mdpi.com/2073-4425/10/1/8
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http://dx.doi.org/10.3390/genes10010008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357176PMC
December 2018

Vitamin B6 is essential for serine de novo biosynthesis.

J Inherit Metab Dis 2017 11 11;40(6):883-891. Epub 2017 Aug 11.

Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, KC02.069.1, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.

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http://doi.wiley.com/10.1007/s10545-017-0061-3
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http://dx.doi.org/10.1007/s10545-017-0061-3DOI Listing
November 2017

Quantification of metabolites in dried blood spots by direct infusion high resolution mass spectrometry.

Anal Chim Acta 2017 Aug 26;979:45-50. Epub 2017 Apr 26.

Department of Genetics and Center for Molecular Medicine, UMC Utrecht, Utrecht, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00032670173051
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http://dx.doi.org/10.1016/j.aca.2017.04.038DOI Listing
August 2017

A New Approach for Fast Metabolic Diagnostics in CMAMMA.

JIMD Rep 2016 27;30:15-22. Epub 2016 Feb 27.

Department of Pediatric Gastroenterology and Metabolic Diseases, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110436PMC
February 2016

Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspots.

Anal Chim Acta 2015 Jan 31;853:435-441. Epub 2014 Oct 31.

Department of Medical Genetics, Wilhelmina Children's Hospital, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.aca.2014.10.043DOI Listing
January 2015

Vitamin B-6 vitamers in human plasma and cerebrospinal fluid.

Am J Clin Nutr 2014 Aug 7;100(2):587-92. Epub 2014 May 7.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands (MA, MB, JJMJ, ES, MGMdS-vdV, NVVAMK, and NMV-D); the Neurogenetics Unit (JJL) and the Department of Psychiatry (SCB and RAO), Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands; the Department of Psychiatry, ZNA Hospitals, Antwerp, Belgium (JJL); the Department of Anesthesiology, Intensive Care and Pain Management, Diakonessenhuis Hospital, Utrecht, Netherlands (PJB); the Department of Anesthesiology, Central Military Hospital, Utrecht, Netherlands (PJMK); the Department of Anesthesiology, Intensive Care and Pain Management, St Antonius Hospital, Nieuwegein, Netherlands (EPAvD and PB); the Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands (GV); and the Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA (RAO).

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http://dx.doi.org/10.3945/ajcn.113.082008DOI Listing
August 2014

Differences between acylcarnitine profiles in plasma and bloodspots.

Mol Genet Metab 2013 Sep-Oct;110(1-2):116-21. Epub 2013 Apr 13.

Department of Medical Genetics, UMC Utrecht, The Netherlands Wilhelmina Children's Hospital, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2013.04.008DOI Listing
March 2014

Analysis of the genomic response of human prostate cancer cells to histone deacetylase inhibitors.

Epigenetics 2013 Sep 19;8(9):907-20. Epub 2013 Jul 19.

Department of Gynecology; Catharina Hospital Eindhoven; Eindhoven, The Netherlands; Prostate Cancer Program; Sidney Kimmel Comprehensive Cancer Center; Johns Hopkins University School of Medicine; Baltimore, MD USA; These authors contributed equally to this work.

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http://dx.doi.org/10.4161/epi.25574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883768PMC
September 2013

Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKU.

Mol Genet Metab 2013 Jun 21;109(2):121-4. Epub 2013 Mar 21.

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

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http://dx.doi.org/10.1016/j.ymgme.2013.03.006DOI Listing
June 2013

Impact of comorbidity on complications after nephrectomy: use of the Clavien Classification of Surgical Complications.

BJU Int 2012 Sep 20;110(5):682-7. Epub 2012 Mar 20.

Department of Urology, University Medical Center Utrecht, The Netherlands.

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http://dx.doi.org/10.1111/j.1464-410X.2011.10889.xDOI Listing
September 2012

Incomplete thermal ablation stimulates proliferation of residual renal carcinoma cells in a translational murine model.

BJU Int 2012 Sep 22;110(6 Pt B):E281-6. Epub 2012 May 22.

Department of Urology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1111/j.1464-410X.2012.11261.xDOI Listing
September 2012

Photodynamic therapy as novel nephron sparing treatment option for small renal masses.

J Urol 2012 Jan 17;187(1):289-95. Epub 2011 Nov 17.

Department of Urology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.juro.2011.09.006DOI Listing
January 2012