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Francois Eyskens
Francois Eyskens
Unknown affiliation
Verified email at pcma.provant.be
Title
Cited by
Cited by
Year
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
DA Hughes, K Nicholls, SP Shankar, G Sunder-Plassmann, D Koeller, ...
Journal of medical genetics 54 (4), 288-296, 2017
3402017
Fabry disease: a review of current management strategies
A Mehta, M Beck, F Eyskens, C Feliciani, I Kantola, U Ramaswami, ...
QJM: An International Journal of Medicine 103 (9), 641-659, 2010
2502010
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
L De Meirleir, S Seneca, W Lissens, I De Clercq, F Eyskens, E Gerlo, ...
Journal of medical genetics 41 (2), 120-124, 2004
2422004
Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease
R Brouns, V Thijs, F Eyskens, M Van den Broeck, S Belachew, ...
Stroke 41 (5), 863-868, 2010
1462010
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up
L Welling, LE Bernstein, GT Berry, AB Burlina, F Eyskens, M Gautschi, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2017
1442017
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
N Ajit Bolar, AV Vanlander, C Wilbrecht, N Van der Aa, J Smet, ...
Human molecular genetics 22 (13), 2590-2602, 2013
1252013
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome
J Jaeken, K Martens, I François, F Eyskens, C Lecointre, R Derua, ...
The American Journal of Human Genetics 78 (1), 38-51, 2006
882006
Multiplex ligation‐dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics
L Rooms, E Reyniers, W Wuyts, K Storm, R Van Luijk, S Scheers, ...
Clinical genetics 69 (1), 58-64, 2006
862006
The natural history of classic galactosemia: lessons from the GalNet registry
ME Rubio-Gozalbo, M Haskovic, AM Bosch, B Burnyte, AI Coelho, ...
Orphanet journal of rare diseases 14 (1), 1-11, 2019
822019
Oral migalastat HCl leads to greater systemic exposure and tissue levels of active α-galactosidase A in Fabry patients when co-administered with infused agalsidase
DG Warnock, DG Bichet, M Holida, O Goker-Alpan, K Nicholls, M Thomas, ...
PLoS One 10 (8), e0134341, 2015
692015
Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke
R Brouns, R Sheorajpanday, E Braxel, F Eyskens, R Baker, D Hughes, ...
Clinical neurology and neurosurgery 109 (6), 479-484, 2007
682007
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
WG van Ginkel, R Jahja, SCJ Huijbregts, A Daly, A MacDonald, C De Laet, ...
Orphanet journal of rare diseases 11, 1-9, 2016
672016
Identifying non–Duchenne muscular dystrophy–positive and false negative results in prior Duchenne muscular dystrophy newborn screening programs: a review
MA Gatheridge, JM Kwon, JM Mendell, G Scheuerbrandt, SJ Moat, ...
JAMA neurology 73 (1), 111-116, 2016
622016
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
ABP van Kuilenburg, D Dobritzsch, J Meijer, R Meinsma, JF Benoist, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1802 (7-8 …, 2010
622010
Neonatal thyroid-stimulating hormone concentrations in Belgium: a useful indicator for detecting mild iodine deficiency?
S Vandevijvere, W Coucke, J Vanderpas, C Trumpff, M Fauvart, ...
PLoS One 7 (10), e47770, 2012
562012
Dietary management of urea cycle disorders: European practice
S Adam, MF Almeida, M Assoun, J Baruteau, SM Bernabei, S Bigot, ...
Molecular genetics and metabolism 110 (4), 439-445, 2013
532013
Phase I/II Trial of Liver–derived Mesenchymal Stem Cells in Pediatric Liver–based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety …
F Smets, D Dobbelaere, P McKiernan, C Dionisi-Vici, P Broué, ...
Transplantation 103 (9), 1903-1915, 2019
452019
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
J PIÉ, N CASALS, CH CASALE, C BUESA, C MASCARÓ, A BARCELÓ, ...
Biochemical Journal 323 (2), 329-335, 1997
451997
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
R Posset, SF Garbade, N Boy, AB Burlina, C Dionisi‐Vici, D Dobbelaere, ...
Journal of inherited metabolic disease 42 (1), 93-106, 2019
392019
Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young
I De Brabander, L Yperzeele, C Ceuterick-De Groote, R Brouns, R Baker, ...
Clinical neurology and neurosurgery 115 (7), 1088-1093, 2013
382013
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