L
Luc Régal
Researcher at Katholieke Universiteit Leuven
Publications - 38
Citations - 1611
Luc Régal is an academic researcher from Katholieke Universiteit Leuven. The author has contributed to research in topics: Newborn screening & Glycosylation. The author has an hindex of 17, co-authored 36 publications receiving 1255 citations.
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Journal ArticleDOI
COG5-CDG: expanding the clinical spectrum
Daisy Rymen,Liesbeth Keldermans,Valerie Race,Luc Régal,Nicolas Deconinck,Carlo Dionisi-Vici,Cheuk Wing Fung,Luisa Sturiale,Claire Rosnoblet,François Foulquier,Gert Matthijs,Jaak Jaeken +11 more
TL;DR: Five new patients with proven COG5 deficiency are identified and it is concluded that the clinical picture is not always as mild as previously described, and comprises a broad spectrum with phenotypes ranging from mild to very severe.
Journal ArticleDOI
ALG1-CDG: clinical and molecular characterization of 39 unreported patients
Bobby G. Ng,Sergey A. Shiryaev,Daisy Rymen,Erik A. Eklund,Kimiyo Raymond,Martin Kircher,Jose E. Abdenur,Jose E. Abdenur,Füsun Alehan,Alina T. Midro,Michael J. Bamshad,Rita Barone,Gerard T. Berry,Jane E. Brumbaugh,Kati J. Buckingham,Katie Clarkson,F. Sessions Cole,Shawn O'Connor,Gregory M. Cooper,Rudy Van Coster,Laurie A. Demmer,Luísa Diogo,Alex J. Fay,Can Ficicioglu,Agata Fiumara,William A. Gahl,Rebecca D. Ganetzky,Himanshu Goel,Lyndsay A. Harshman,Miao He,Jaak Jaeken,Philip James,Daniel Katz,Liesbeth Keldermans,Maria Kibaek,Andrew J. Kornberg,Katherine Lachlan,Christina Lam,Joy Yaplito-Lee,Deborah A. Nickerson,Heidi Peters,Valerie Race,Luc Régal,Jeffrey S. Rush,S. Lane Rutledge,Jay Shendure,Erika Souche,Susan Sparks,Pamela Trapane,Amarilis Sanchez-Valle,Eric Vilain,Arve Vøllo,Charles J. Waechter,Raymond Y. Wang,Raymond Y. Wang,Lynne A. Wolfe,Derek Wong,Tim Wood,Amy Yang,Gert Matthijs,Hudson H. Freeze +60 more
TL;DR: The number of known patients and previously unreported cases of ALG1‐CDG are identified and characterized, and the recently identified protein‐linked xeno‐tetrasaccharide biomarker, NeuAc‐Gal‐GlcNAc2, was seen in all 27 patients tested.
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NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish
Sophie Louwette,Luc Régal,Christine Wittevrongel,Chantal Thys,Gwenny Vandeweeghde,Elisa Decuyper,Peter Leemans,Rita Vos,Chris Van Geet,Jaak Jaeken,Kathleen Freson +10 more
TL;DR: This is the first report, showing a role of NPC1 in platelet function and formation but further studies are needed to define how cholesterol storage interferes with these processes.
Journal ArticleDOI
Peroxisomal Disorders: A Review on Cerebellar Pathologies
TL;DR: It becomes increasingly clear that besides the most severe forms of peroxisome dysfunction that are associated with developmental cerebellar defects, milder impairments can give rise to ataxia later in life.
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RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.
Jacques Jaeken,Wendy Vleugels,Luc Régal,C Corchia,Nathalie Goemans,Micha A. Haeuptle,François Foulquier,Thierry Hennet,Gert Matthijs,Carlo Dionisi-Vici +9 more
TL;DR: All six patients with RFT1-CDG show sensorineural deafness as part of a severe neurological syndrome, which is concluded to be the first ‘deafness- CDG’.