< Back to previous page
Researcher
Luc Régal
- Disciplines:Biochemistry and metabolism, Medical biochemistry and metabolism
Affiliations
- Laboratory for Biochemical Neuroendocrinology (Division)
Member
From1 Oct 2011 → Today
Projects
1 - 1 of 1
- The role of PREPL in hypotonia-cystinuria syndromeFrom8 Sep 2008 → 31 Dec 2019Funding: Own budget, for example: patrimony, inscription fees, gifts
Publications
1 - 10 of 30
- Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.(2019)
Authors: Luc Régal
Pages: 70 - 79 - Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain(2018)
Authors: Berendine J Ebbink, Esther Poelman, Femke K Aarsen, Iris Plug, Luc Régal, Carsten Muentjes, Nadine AME Van Der Beek, Maarten H Lequin, Ans T Van Der Ploeg, Johanna MP Van Den Hout
Pages: 579 - + - Isolated sulfite oxidase deficiency(2018)
Authors: Helena Claerhout, Peter Witters, Luc Régal, Katrien Jansen, Jeroen Breckpot, Pieter Vermeersch
Pages: 101 - 108 - PREPL deficiency: delineation of the phenotype and development of a functional blood assay(2018)
Authors: Luc Régal, John Creemers
Pages: 109 - 118 - ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients(2016)
Authors: Daisy Rymen, Luc Régal, Erika Souche, Gert Matthijs
Pages: 653 - 660 - Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation(2016)
Authors: Peter Witters, Luc Régal, Eva Morava
Pages: 1642 - 6 - Peroxisomal Disorders: A Review on Cerebellar Pathologies(2015)
Authors: Stephanie De Munter, Simon Verheijden, Luc Régal, Myriam Baes
Pages: 663 - 78 - [Newborn screening : the point of view of the paediatrician].(2015)
Authors: Luc Régal
Pages: 212 - 218 - ALG11-CDG: Three novel mutations and further characterization of the phenotype(2015)
Authors: Luc Régal, François Foulquier, Katrien Jansen, Gert Matthijs
Pages: 16 - 19 - Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)
Authors: Liesbeth De Waele, Koenraad Devriendt, Lieven Lagae, Luc Régal
Pages: 296 - 312