Jeroen Roelofsen
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 12 publications
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 25, 2023
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.
Journal: Molecular genetics and metabolism reports
Published: October 25, 2021
Children with atopic dermatitis show increased activity of β-glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu.
Journal: The British journal of dermatology
Published: April 27, 2021
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).
Journal: Molecular genetics and metabolism reports
Published: October 02, 2020
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Journal: Molecular genetics and metabolism reports
Published: August 17, 2020
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Journal: Molecular genetics and metabolism
Published: September 05, 2017
The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: March 03, 2017
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
Journal: American journal of medical genetics. Part A
Published: February 27, 2017
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
Journal: Biochimica et biophysica acta
Published: October 21, 2015
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
Journal: Journal of inherited metabolic disease
Published: August 27, 2013
Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic status.
Journal: PloS one
Published: December 12, 2012
Cholestasis is associated with hepatic microvascular dysfunction and aberrant energy metabolism before and during ischemia-reperfusion.
Journal: Antioxidants & redox signaling
Published: April 10, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026