Erwin W. Jansen
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 31 publications
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.
Journal: Clinical genetics
Published: June 16, 2022
Fecal amine metabolite analysis before onset of severe necrotizing enterocolitis in preterm infants: a prospective case-control study.
Journal: Scientific reports
Published: September 26, 2021
Fecal Amino Acid Analysis in Newly Diagnosed Pediatric Inflammatory Bowel Disease: A Multicenter Case-Control Study.
Journal: Inflammatory bowel diseases
Published: April 20, 2021
Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
Journal: PloS one
Published: January 12, 2021
Preferential accumulation of the active S-(+) isomer in murine retina highlights novel mechanisms of vigabatrin-associated retinal toxicity.
Journal: Epilepsy research
Published: September 29, 2020
Fecal Amino Acid Profiles Exceed Accuracy of Serum Amino Acids in Diagnosing Pediatric Inflammatory Bowel Disease.
Journal: Journal of pediatric gastroenterology and nutrition
Published: May 15, 2020
Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Journal: Metabolic brain disease
Published: April 20, 2020
Vigabatrin-Induced Retinal Functional Alterations and Second-Order Neuron Plasticity in C57BL/6J Mice.
Journal: Investigative ophthalmology & visual science
Published: February 14, 2020
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Journal: Metabolic brain disease
Published: November 21, 2019
Pre-analytical stability of novel cerebrospinal fluid biomarkers.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: April 09, 2019
Metabolomic analyses of vigabatrin (VGB)-treated mice: GABA-transaminase inhibition significantly alters amino acid profiles in murine neural and non-neural tissues.
Journal: Neurochemistry international
Published: January 30, 2019
Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
Journal: Journal of inherited metabolic disease
Published: December 31, 2018
Last Updated: 09/26/2026