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

Clinical Neurology and Neurosurgery

Volumn 115, Issue 7, 2013, Pages 1088-1093

  De Brabander, Isabel ^a,b   Yperzeele, Laetitia ^c   Ceuterick De Groote, Chantal ^a   Brouns, Raf ^d   Baker, Robert ^e   Belachew, Shibeshih ^f   Delbecq, Jean ^g   De Keulenaer, Gilles ^h,i   Dethy, Sophie ^j   Eyskens, François ^c,i   Fumal, Arnaud ^k   Hemelsoet, Dimitri ^l   Hughes, Derralynn ^e   Jeangette, Sandrine ^m   Nuytten, Dirk ⁿ   Redondo, Patricia ^j   Sadzot, Bernard ^f   Sindic, Christian ^o   Sheorajpanday, Rishi ^b   Thijs, Vincent ^p,q   Van Broeckhoven, Christine ^a,q   De Deyn, Peter P ^a,b   more..

^a UNIVERSITY OF ANTWERP   (Belgium)

^b Memory Clinic   (Belgium)

^c ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^e ROYAL FREE LONDON NHS FOUNDATION TRUST   (United Kingdom)

^f UNIVERSITY OF LIÈGE   (Belgium)

^g Regional Hospital   (Belgium)

^h Hospital Network Antwerp (ZNA) Middelheim   (Belgium)

ⁱ UNIVERSITY OF ANTWERP   (Belgium)

^j Centre Hospitalier Universitaire de Tivoli   (Belgium)

^k UNIVERSITY OF LIÈGE   (Belgium)

^l GHENT UNIVERSITY HOSPITAL   (Belgium)

^m Centre Hospitalier Universitaire de Charleroi   (Belgium)

ⁿ Stuivenberg General Hospital   (Belgium)

^o CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^p UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^q DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

more..

Author keywords

Cerebrovascular disease; Fabry disease; Family screening; Genetics of stroke; Phenotyping; Risk factors for stroke; Stroke in young

Indexed keywords

ALPHA GALACTOSIDASE; GENOMIC DNA;

ARTICLE; AUDIOGRAPHY; BRAIN INFARCTION; CEREBROVASCULAR ACCIDENT; CLINICAL ARTICLE; CLINICAL EVALUATION; CLINICAL EXAMINATION; CORNEA DISEASE; CORNEA VERTICILLATA; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ENZYME ACTIVITY; ENZYME DEFICIENCY; EYE EXAMINATION; FABRY DISEASE; FEMALE; GENE MUTATION; GENETIC SCREENING; HEARING IMPAIRMENT; HEART LEFT VENTRICLE HYPERTROPHY; HEMANGIOKERATOMA; HETEROZYGOTE; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; RISK ASSESSMENT; SKIN BIOPSY; URINALYSIS; VASCULAR LESION;

ADULT; ALPHA-GALACTOSIDASE; BELGIUM; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FABRY DISEASE; FEMALE; GENETIC TESTING; GLYCOLIPIDS; HUMANS; MALE; MUTATION; PHENOTYPE; SKIN; SPHINGOLIPIDS; STROKE; TRIHEXOSYLCERAMIDES; VERTEBROBASILAR INSUFFICIENCY; YOUNG ADULT;

EID: 84878851460     PISSN: 03038467     EISSN: 18726968     Source Type: Journal    
DOI: 10.1016/j.clineuro.2012.11.003     Document Type: Article

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