List of works - Judith J Jans

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

scientific article published on 27 December 2019

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

scientific article published on 09 July 2019

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

scientific article published on 18 October 2019

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

scientific article published on 15 August 2019

Diagnostic and prognostic tissuemarkers in clear cell and papillary renal cell carcinoma ⬇️

scientific article published on January 1, 2010

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

scientific article published on 11 January 2019

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

scientific article published on 15 March 2019

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

scientific article published on 27 March 2019

Dissemination and analysis of the quality assurance (QA) and quality control (QC) practices of LC-MS based untargeted metabolomics practitioners

scientific article published on 12 October 2020

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

scientific article published on 01 January 2019

Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency

scientific article published on 28 May 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

scientific article published on 01 September 2019

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

scientific article published on 01 March 2019

Identification of human D lactate dehydrogenase deficiency

scientific article published on 01 April 2019

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

scientific article published on March 20, 2012

Inborn errors of enzymes in glutamate metabolism

scientific article published on 11 October 2019

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

scientific article published on May 22, 2012

Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.

scientific article published on January 2017

MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy

scientific article published on 19 September 2019

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

scientific article published on 14 November 2019

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

scientific article published on 28 January 2020

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

scientific article published on 04 April 2019

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

scientific article published on 01 March 2019

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

scientific article published on 07 August 2019

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

scientific article published on 09 July 2019

Photodynamic Therapy as Novel Nephron Sparing Treatment Option for Small Renal Masses ⬇️

scientific article published on November 17, 2011

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

scientific article published on 21 November 2019

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry.

scientific article published on 21 April 2016

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

scientific article published on 11 December 2019

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

scientific article

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

article

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

scientific article published on 06 March 2020

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

scientific article published on 01 February 2020

[Metabolic diseases in psychiatry].