Fabry disease with atypical neurological presentation: Report of a case

Neurologist

Volumn 18, Issue 6, 2012, Pages 413-414

  Simoncini, Costanza ^a   Orsucci, Daniele ^a   Gori, Sara ^a   Giorgi, Filippo S ^a   Cosottini, Mirco ^a   Siciliano, Gabriele ^a   Mancuso, Michelangelo ^a  

^a UNIVERSITY OF PISA   (Italy)

Author keywords

C63Y; cerebrovascular disease; Fabry disease; GALA; TGA; transient global amnesia

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; ARTICLE; AUTONOMIC DYSFUNCTION; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; CEREBROVASCULAR DISEASE; CLINICAL FEATURE; CONSCIOUSNESS DISORDER; ECHOCARDIOGRAPHY; ENZYME ASSAY; ENZYME REPLACEMENT; FABRY DISEASE; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; TRANSIENT GLOBAL AMNESIA;

ADULT; ALPHA-GALACTOSIDASE; AMNESIA; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; GLYCOSPHINGOLIPIDS; HUMANS; MALE; MUTATION; PATHOLOGY, MOLECULAR;

EID: 84869807286     PISSN: 10747931     EISSN: None     Source Type: Journal    
DOI: 10.1097/NRL.0b013e3182761cf6     Document Type: Article

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