Theo dõi
Francois Eyskens
Francois Eyskens
Mục liên kết không xác định
Email được xác minh tại pcma.provant.be
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
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
4342017
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
2802010
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
2522004
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 40, 171-176, 2017
1942017
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
1582010
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
1342013
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, 1-11, 2019
1202019
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
1012006
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
882006
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
802016
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
772015
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
732007
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
672016
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
672010
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
592013
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
592012
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
562019
Impact of diagnosis and therapy on cognitive function in urea cycle disorders
R Posset, AL Gropman, SCS Nagamani, LC Burrage, JK Bedoyan, ...
Annals of neurology 86 (1), 116-128, 2019
542019
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
461997
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
452019
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