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1

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

van Ginkel, Willem G., Jahja, Rianne, Huijbregts, Stephan C. J., Daly, Anne, MacDonald, Anita, De Laet, Corinne, Cassiman, David, Eyskens, François, Körver-Keularts, Irene M. L. W., Goyens, Philippe J

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 746 KB

english, 2016

2

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

Welling, Lindsey, Bernstein, Laurie E., Berry, Gerard T., Burlina, Alberto B., Eyskens, François, Gautschi, Matthias, Grünewald, Stephanie, Gubbels, Cynthia S., Knerr, Ina, Labrune, Philippe, van der

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 266 KB

english, 2017

3

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients

Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, De Laet, Corinne, Leuzzi, Vincenzo, Rutsch, Frank, Sivri, H. Serap, Vijay, Suresh, Bal, Milva Orquidea, Gramer, Gwendolyn, Pazd

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 978 KB

english, 2017

4

Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia

Bonham, James, Carling, Rachel, Lindner, Martin, Franzson, Leifur, Zetterstrom, Rolf, Boemer, Francois, Cerone, Roberto, Eyskens, Francois, Vilarinho, Laura, Hougaard, David, Schielen, Peter

Journal:

International Journal of Neonatal Screening

Year:

2018

Language:

english

File:

PDF, 200 KB

english, 2018

5

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 677 KB

english, 2019

6

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

van Vliet, Kimber, van Ginkel, Willem G., Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 677 KB

2019

7

The Belgian hematology project: Screening for Gaucher and Niemann-Pick disease

Eyskens, Francois Joseph

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 334 KB

2020

8

Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome

Yolande van Bever, Wendy Balemans, Els L.I.M. Duval, Ann Jespers, François Eyskens, Wim van Hul, Winnie Courtens

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 223 KB

english, 2007

9

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines

Merel S. Ebberink, Petra A.W. Mooyer, Janet Koster, Conny J.M. Dekker, François J.M. Eyskens, Carlo Dionisi-Vici, Peter T. Clayton, Peter G. Barth, Ronald J.A. Wanders, Hans R. Waterham

Journal:

Year:

2009

Language:

english

File:

PDF, 489 KB

english, 2009

10

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

Frank Roels, Patrick Verloo, François Eyskens, Baudouin François, Sara Seneca, Boel De Paepe, Jean-Jacques Martin, Valerie Meersschaut, Marleen Praet, Emmanuel Scalais, Marc Espeel, Joél Smet, Gert Va

Journal:

BMC Clinical Pathology

Year:

2009

Language:

english

File:

PDF, 5.62 MB

english, 2009

11

Prenatal exclusion of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency by direct detection of the mutation with PCR

Jan Hendrickx, Peter van Osta, François Eyskens, Yoichi Matsubara, Kuniaki Narisawa, Patrick J. Willems

Journal:

Prenatal Diagnosis

Year:

1992

Language:

english

File:

PDF, 289 KB

english, 1992

12

A marked difference between two populations under mass screening of neonatal TSH and biotinidase activity

T. Tanyalçın, François Eyskens, Eddy Philips, Marc Lefevere, Benal Büyükgebiz

Journal:

Accreditation and Quality Assurance

Year:

2002

Language:

english

File:

PDF, 354 KB

english, 2002

13

The use of split-sample design for performance evaluation of screening kits

Tijen Tanyalçın, François Eyskens, Eddy Philips, Marc Lefevere, Orcan Tanyalçın

Journal:

Accreditation and Quality Assurance

Year:

2004

Language:

english

File:

PDF, 194 KB

english, 2004

14

Cognitive functioning and psychiatric disorders in children with a metabolic disease

Annik Simons, François Eyskens, Ann De Groof, Ellen Van Diest, Dirk Deboutte, Robert Vermeiren

Journal:

European Child & Adolescent Psychiatry

Year:

2006

Language:

english

File:

PDF, 115 KB

english, 2006

15

Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: A novel type of primary hyperoxaluria

Van Acker, Karel J, Eyskens, François J, Espeel, Marc F, Wanders, Ronald J A, Dekker, Conny, Kerckaert, Ingrid O, Roels, Frank

Journal:

Kidney International

Year:

1996

Language:

english

File:

PDF, 639 KB

english, 1996

16

Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data

Tim Van den Bulcke, Paul Vanden Broucke, Viviane Van Hoof, Kristien Wouters, Seppe Vanden Broucke, Geert Smits, Elke Smits, Sam Proesmans, Toon Van Genechten, François Eyskens

Journal:

Journal of Biomedical Informatics

Year:

2011

Language:

english

File:

PDF, 571 KB

english, 2011

17

Middelheim Fabry Study (MiFaS): A retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke

Raf Brouns, Rishi Sheorajpanday, Ellen Braxel, François Eyskens, Robert Baker, Derralynn Hughes, Atul Mehta, Therese Timmerman, Marie-Françoise Vincent, Peter Paul De Deyn

Journal:

Clinical Neurology and Neurosurgery

Year:

2007

Language:

english

File:

PDF, 245 KB

english, 2007

18

Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome

Jaak Jaeken, Kevin Martens, Inge François, François Eyskens, Claudine Lecointre, Rita Derua, Sandra Meulemans, Jerry W. Slootstra, Etienne Waelkens, Francis de Zegher, John W.M. Creemers, Gert Matthij

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 2.44 MB

english, 2006

19

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism

De Groote, Katya, Cools, Martine, De Schepper, Jean, Craen, Margarita, François, Inge, Devos, Daniel, Carbonez, Karlien, Eyskens, Benedicte, De Wolf, Daniel, Aprikyan, Andranik Andrew

Journal:

Year:

2013

Language:

english

File:

PDF, 510 KB

english, 2013

20

Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: A case report

Luyckx, Evelien, Eyskens, François, Simons, Annik, Beckx, Katrien, Van West, Dirk, Dhar, Monica

Journal:

Clinical Neurology and Neurosurgery

Year:

2014

Language:

english

File:

PDF, 268 KB

english, 2014

21

A phase 2a study to investigate the effect of a single dose of migalastat HCl, a pharmacological chaperone, on agalsidase activity in subjects with Fabry disease

Warnock, David, Bichet, Daniel, Holida, Myrl, Goker-Alpan, Ozlem, Nicholls, Kathy, Thomas, Mark, Eyskens, Francois, Shankar, Suma, Dasouki, Majed, Johnson, Franklin, Boudes, Pol

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 96 KB

english, 2013

22

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young

De Brabander, Isabel, Yperzeele, Laetitia, Ceuterick-De Groote, Chantal, Brouns, Raf, Baker, Robert, Belachew, Shibeshih, Delbecq, Jean, De Keulenaer, Gilles, Dethy, Sophie, Eyskens, François, Fumal,

Journal:

Clinical Neurology and Neurosurgery

Year:

2013

Language:

english

File:

PDF, 256 KB

english, 2013

23

M1654 Children with a Metabolic Disorder and Persistent Anorexia Have Low Plasma Ghrelin

Mulleman, Marjan, Eyskens, Francois, Depoortere, Inge, Staelens, Sofie, Beernaert, Sigrid, Peeters, Theo L., Veereman, Gigi

Journal:

Gastroenterology

Year:

2008

Language:

english

File:

PDF, 128 KB

english, 2008

24

Urinary Excretion of Purine and Pyrimidine Metabolites in the Neonate

Van Acker, Karel J, Eyskens, Francois J, Verkerk, Robert M, Scharpé, Simon S

Journal:

Pediatric Research

Year:

1993

Language:

english

File:

PDF, 483 KB

english, 1993

25

Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder

Gootjes, Jeannette, Elpeleg, Orly, Eyskens, François, Mandel, Hanna, Mitanchez, Delphine, Shimozawa, Noboyuki, Suzuki, Yasuyuki, Waterham, Hans R, Wanders, Ronald J A

Journal:

Pediatric Research

Year:

2004

Language:

english

File:

PDF, 150 KB

english, 2004

26

Identifying Non–Duchenne Muscular Dystrophy–Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs

Gatheridge, Michele A., Kwon, Jennifer M., Mendell, Jerry M., Scheuerbrandt, Günter, Moat, Stuart J., Eyskens, François, Rockman-Greenberg, Cheryl, Drousiotou, Anthi, Griggs, Robert C.

Journal:

Year:

2015

Language:

english

File:

PDF, 113 KB

english, 2015

27

Cytomegalovirus DNA Detection in Guthrie Cards

Boudewyns, An, Declau, Frank, Smets, Koenraad, Ursi, Dominique, Eyskens, François, Van den Ende, Jenneke, Van de Heyning, Paul

Journal:

Otology & Neurotology

Year:

2009

Language:

english

File:

PDF, 417 KB

english, 2009

28

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

PIÉ, Juan, CASALS, Núria, CASALE, Cesar H., BUESA, Carlos, MASCARÓ, Cristina, BARCELÓ, Anna, ROLLAND, Marie-Odile, ZABOT, Theresa, HARO, Diego, EYSKENS, François, DIVRY, Priscille, HEGARDT, Fausto G.

Journal:

Biochemical Journal

Year:

1997

Language:

english

File:

PDF, 458 KB

english, 1997

29

Newborn Screening for Lysosomal Storage Disorders in Belgium

Eyskens, Francois, Devos, Sylvie

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2017

Language:

english

File:

PDF, 363 KB

english, 2017

30

Carnitine Deficiency and Pregnancy

de Bruyn, Anouk, Jacquemyn, Yves, Kinget, Kristof, Eyskens, François

Journal:

Case Reports in Obstetrics and Gynecology

Year:

2015

Language:

english

File:

PDF, 1.23 MB

english, 2015

31

Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age

Hauth, Lothar, Kerstens, Jeroen, Yperzeele, Laetitia, Eyskens, François, Parizel, Paul M., Willekens, Barbara

Journal:

Frontiers in Neurology

Year:

2018

Language:

english

File:

PDF, 935 KB

english, 2018

32

Newborn screening for lysosomal diseases: The need for sex and gestational age dependent reference ranges

Eyskens, Francois

Journal:

Molecular Genetics and Metabolism

Year:

2018

File:

PDF, 68 KB

2018

33

Newborn screening for lysosomal diseases: The need for sex and gestational age dependent reference ranges

Eyskens, Francois

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 68 KB

english, 2018

34

Girl With Tyrosinemia Type 1 and Executive Dysfunctions Treated With Methylphenidate

Simons, Annik, Eyskens, Francois, Raets, Elien, Glazemakers, Inge, van West, Dirk

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2018

File:

PDF, 123 KB

2018

35

Recurrent acute coronary syndrome, polymorphic premature ventricular complexes and a son with a (mis)diagnosis of multiple sclerosis

Nestele, Jeremy, van den Hoven, Carst, Van Craenenbroeck, Emeline M., Eyskens, Francois, Paelinck, Bernard P., Dendooven, Amélie, Haine, Steven E.

Journal:

Acta Cardiologica

Year:

2019

Language:

english

File:

PDF, 705 KB

english, 2019

36

Multiple sclerosis as a misdiagnosis of Fabry disease

Eyskens, Francois

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 47 KB

english, 2019

37

Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis

Libbrecht, Sasha, Eyskens, Francois, Declercq, Sabine, Colpaert, Cecile

Journal:

Case Reports in Pathology

Year:

2020

File:

PDF, 787 KB

2020

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