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F. Eyskens · SciRah

Researcher profile · Semantic Scholar

F. Eyskens

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F. Eyskens — researcher profile on SciRah

h-index: 24
Works: 90
Citations: 2,408

Most-cited papers

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
D. Hughes, K. Nicholls, S. Shankar, G. Sunder-Plassmann +34 more
2016Journal of Medical Genetics348 citations Open access
Semantic Scholar
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12
L. D. De Meirleir, S. Seneca, W. Lissens, I. De Clercq +4 more
2004Journal of Medical Genetics210 citations Open access
Semantic Scholar
Fabry disease: a review of current management strategies.
A. Mehta, M. Beck, F. Eyskens, C. Feliciani +6 more
2010QJM : monthly journal of the Association of Physicians194 citations Open access
Semantic Scholar
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
L. Welling, L. Bernstein, G. Berry, A. Burlina +19 more
2016Journal of Inherited Metabolic Disease155 citations Open access
Semantic Scholar
The natural history of classic galactosemia: lessons from the GalNet registry
M. E. Rubio-Gozalbo, M. Haskovic, A. Bosch, B. Burnytė +39 more
2019Orphanet Journal of Rare Diseases117 citations Open access
Semantic Scholar
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 +10 more
2010Stroke112 citations Open access
Semantic Scholar
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
Nikhita Ajit Bolar, A. Vanlander, Claudia Wilbrecht, N. van der Aa +13 more
2013Human Molecular Genetics111 citations
Semantic Scholar
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.
J. Jaeken, K. Martens, I. François, F. Eyskens +8 more
2006American Journal of Human Genetics84 citations Open access
Semantic Scholar
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls
Willem G. van Ginkel, R. Jahja, S. Huijbregts, A. Daly +8 more
2016Orphanet Journal of Rare Diseases71 citations Open access
Semantic Scholar
Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.
R. Brouns, R. Sheorajpanday, Ellen Braxel, F. Eyskens +6 more
2007Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)69 citations
Semantic Scholar
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
D. Warnock, D. Bichet, M. Holida, O. Goker-Alpan +15 more
2015PLoS ONE64 citations Open access
Semantic Scholar
Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.
Michele A. Gatheridge, J. Kwon, J. Mendell, G. Scheuerbrandt +5 more
2016JAMA Neurology61 citations Open access
Semantic Scholar
Impact of diagnosis and therapy on cognitive function in urea cycle disorders
R. Posset, A. Gropman, S. Nagamani, Lindsay C. Burrage +40 more
2019Annals of Neurology58 citations Open access
Semantic Scholar
Neonatal Thyroid-Stimulating Hormone Concentrations in Belgium: A Useful Indicator for Detecting Mild Iodine Deficiency?
S. Vandevijvere, W. Coucke, J. Vanderpas, Caroline Trumpff +15 more
2012PLoS ONE46 citations Open access
Semantic Scholar
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, C. Casale, C. Buesa +8 more
1997Biochemical Journal42 citations Open access
Semantic Scholar
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry
F. Molema, F. Gleich, P. Burgard, A. T. Ploeg +64 more
2019Journal of Inherited Metabolic Disease38 citations Open access
Semantic Scholar
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial
A. Muntau, A. Burlina, F. Eyskens, P. Freisinger +14 more
2017Orphanet Journal of Rare Diseases38 citations Open access
Semantic Scholar
Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: a novel type of primary hyperoxaluria.
K. van Acker, F. Eyskens, M. Espeel, R. J. A. Wanders +3 more
1996Kidney International36 citations Open access
Semantic Scholar
Carbohydrate‐deficient glycoprotein syndrome with previously unreported features
F. Eyskens, C. Ceuterick, Jj. Martin, G. Janssens +1 more
1994Acta paediatrica34 citations
Semantic Scholar
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
F. Molema, F. Gleich, P. Burgard, A. T. van der Ploeg +63 more
2019Molecular Genetics and Metabolism32 citations Open access
Semantic Scholar
Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data
T. Van den Bulcke, Paul Vanden Broucke, V. Van Hoof, Kristien Wouters +6 more
2011Journal of Biomedical Informatics29 citations Open access
Semantic Scholar
Can psychiatric childhood disorders be due to inborn errors of metabolism?
A. Simons, F. Eyskens, I. Glazemakers, D. van West
2016European Child and Adolescent Psychiatry28 citations Open access
Semantic Scholar
Cytomegalovirus DNA Detection in Guthrie Cards: Role in the Diagnostic Work-Up of Childhood Hearing Loss
A. Boudewyns, F. Declau, K. Smets, D. Ursi +3 more
2009Otology and Neurotology27 citations
Semantic Scholar
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.
Britt van Erven, L. Welling, S. V. van Calcar, A. Doulgeraki +7 more
2017JIMD Reports25 citations Open access
Semantic Scholar
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
A. Muntau, A. Burlina, F. Eyskens, P. Freisinger +9 more
2021Orphanet Journal of Rare Diseases24 citations Open access
Semantic Scholar
Dietary practices in propionic acidemia: A European survey
A. Daly, A. Pinto, S. Evans, M. Almeida +72 more
2017Molecular Genetics and Metabolism Reports24 citations Open access
Semantic Scholar
Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder
J. Gootjes, O. Elpeleg, F. Eyskens, H. Mandel +5 more
2004Pediatric Research24 citations
Semantic Scholar
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
K. van Vliet, Willem G. van Ginkel, R. Jahja, A. Daly +18 more
2019Orphanet Journal of Rare Diseases23 citations Open access
Semantic Scholar
Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: a case report.
Evelien Luyckx, F. Eyskens, A. Simons, Katrien Beckx +2 more
2014Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)23 citations
Semantic Scholar
Dietary practices in isovaleric acidemia: A European survey
A. Pinto, A. Daly, S. Evans, M. Almeida +71 more
2017Molecular Genetics and Metabolism Reports19 citations Open access
Semantic Scholar
Neurologic sequelae in transient nonketotic hyperglycinemia of the neonate.
F. Eyskens, J. V. Van Doorn, P. Mariën
1992Jornal de Pediatria19 citations
Semantic Scholar
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects
F. Roels, P. Verloo, F. Eyskens, B. François +10 more
2009BMC Clinical Pathology17 citations Open access
Semantic Scholar
G.P.10 10 Newborn screening for Duchenne muscular dystrophy. The experience in the province of Antwerp
F. Eyskens, E. Philips
200617 citations
Semantic Scholar
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age
L. Hauth, J. Kerstens, L. Yperzeele, F. Eyskens +2 more
2018Frontiers in Neurology15 citations Open access
Semantic Scholar
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
K. van Vliet, Willem G. van Ginkel, R. Jahja, A. Daly +31 more
2022Journal of Inherited Metabolic Disease14 citations Open access
Semantic Scholar
Dietary practices in methylmalonic acidaemia: a European survey
A. Pinto, S. Evans, A. Daly, M. Almeida +74 more
2019Journal of Pediatric Endocrinology & Metabolism (JPEM)12 citations Open access
Semantic Scholar
Cognitive functioning and psychiatric disorders in children with a metabolic disease
A. Simons, F. Eyskens, A. D. de Groof, Ellen Van Diest +2 more
2006European Child and Adolescent Psychiatry11 citations
Semantic Scholar
Urinary Excretion of Purine and Pyrimidine Metabolites in the Neonate
K. van Acker, F. Eyskens, R. Verkerk, S. Scharpé
1993Pediatric Research11 citations
Semantic Scholar
Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia
J. Bonham, R. Carling, M. Lindner, L. Franzson +7 more
2018International Journal of Neonatal Screening10 citations Open access
Semantic Scholar
Newborn Screening for Lysosomal Storage Disorders in Belgium: The Importance of Sex- and Age-Dependent Reference Ranges
F. Eyskens, S. Devos
201710 citations Open access
Semantic Scholar
Carnitine Deficiency and Pregnancy
A. de Bruyn, Y. Jacquemyn, K. Kinget, F. Eyskens
2015Case Reports in Obstetrics and Gynecology9 citations Open access
Semantic Scholar
Methylmalonic acidaemia in pregnancy
Y. Jacquemyn, Marieke den Hartog, F. Eyskens
2014BMJ Case Reports9 citations Open access
Semantic Scholar
Peroxisome mosaics.
F. Roels, J. Saudubray, M. Girós, H. Mandel +12 more
2003Advances in Experimental Medicine and Biology9 citations
Semantic Scholar
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry
Amber Van Baelen, L. Roosens, S. Devos, Stijn Verhulst +1 more
2023Molecular Genetics and Metabolism Reports8 citations Open access
Semantic Scholar
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome
Y. van Bever, W. Balemans, Els Duval, A. Jespers +3 more
2007American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
Pregnancy and galactosaemia
L. Noelmans, Y. Jacquemyn, S. Denaeyer, F. Eyskens
2006Journal of Obstetrics and Gynaecology Research8 citations
Semantic Scholar
eP149: Safety and efficacy of pegunigalsidase alfa, every 4 weeks, in Fabry disease: Results from the phase 3, open-label, BRIGHT study
J. Bernat, M. Holida, N. Longo, O. Goker-Alpan +14 more
2022Genetics in Medicine6 citations Open access
Semantic Scholar
Once every 4 weeks - 2 mg/kg of pegunigalsidase alfa for treating Fabry disease Preliminary results of a phase 3 study
M. Holida, J. Bernat, N. Longo, O. Goker-Alpan +16 more
2019Molecular Genetics and Metabolism6 citations
Semantic Scholar
Development of Risk Prediction Equations for Incident Chronic Kidney Disease
K. van Vliet, Willem G. van Ginkel, R. Jahja, A. Daly +18 more
20205 citations
Semantic Scholar
Fabry disease in a patient with Turner syndrome
R. Brouns, F. Eyskens, K. De Boeck, C. C. Groote +3 more
2009Journal of Inherited Metabolic Disease5 citations
Semantic Scholar

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