Dominique Roland
Gosselies, WAL, Belgium
Last Updated: 09/26/2026
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Found 12 publications
Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 31, 2025
A Slc5a6-deficient mouse model reveals metabolically driven cardiomyopathy with therapeutic potential for vitamin-based intervention.
Journal: JCI insight
Published: September 23, 2025
Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.
Journal: npj metabolic health and disease
Published: November 04, 2024
Mitochondrial HMG-CoA synthase deficiency.
Journal: Molecular genetics and metabolism
Published: October 16, 2024
A new case of sodium-dependent multivitamin transporter defect occurring as a life-threatening condition responsive to early vitamin supplementation and literature review.
Journal: Molecular genetics & genomic medicine
Published: October 10, 2023
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.
Journal: Journal of inherited metabolic disease
Published: August 17, 2022
A Novel Phenotype Combining Primary Ovarian Insufficiency Growth Retardation and Pilomatricomas With MCM8 Mutation.
Journal: The Journal of clinical endocrinology and metabolism
Published: October 09, 2019
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.
Journal: Journal of neurology
Published: January 16, 2019
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.
Journal: Molecular genetics and metabolism
Published: November 21, 2017
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Journal: Molecular genetics and metabolism
Published: April 27, 2017
Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.
Journal: Molecular genetics and metabolism
Published: February 07, 2017
Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child.
Journal: Journal of child neurology
Published: February 25, 2013
Showing 1-12 of 12
Last Updated: 09/26/2026