Plasma globotriaosylsphingosine in relation to phenotypes of fabry disease

Journal of Medical Genetics

Volumn 52, Issue 4, 2015, Pages 262-268

  Smid, Bouwien E ^a   Van der Tol, Linda ^a   Biegstraaten, Marieke ^a   Linthorst, Gabor E ^a   Hollak, Carla E M ^a   Poorthuis, Ben J H M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; GLOBOTRIAOSYLCERAMIDE; GLOBOTRIAOSYLSPHINGOSINE; SPHINGOSINE DERIVATIVE; UNCLASSIFIED DRUG; CERAMIDE TRIHEXOSIDE; GLOBOTRIAOSYL LYSOSPHINGOLIPID; GLYCOLIPID; SPHINGOLIPID;

ADOLESCENT; ADULT; AGED; ANHIDROSIS; ARTICLE; BLOOD SAMPLING; CEREBROVASCULAR ACCIDENT; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; FABRY DISEASE; FEMALE; HEART ARRHYTHMIA; HEART FAILURE; HEART INFARCTION; HEART LEFT VENTRICLE HYPERTROPHY; HEMANGIOKERATOMA; HISTOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROPATHIC PAIN; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TRANSIENT ISCHEMIC ATTACK; BLOOD; GENETICS; MIDDLE AGED; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ALPHA-GALACTOSIDASE; FABRY DISEASE; FEMALE; GLYCOLIPIDS; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; SPHINGOLIPIDS; TRIHEXOSYLCERAMIDES; YOUNG ADULT;

EID: 84930649773     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102872     Document Type: Article

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