Toward a consensus in the laboratory diagnostics of Fabry disease - Recommendations of a European expert group

Journal of Inherited Metabolic Disease

Volumn 34, Issue 2, 2011, Pages 509-514

  Gal, Andreas ^a   Hughes, Derralynn A ^b   Winchester, Bryan ^c  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA N ACETYLGALACTOSAMINIDASE; GLOBOTRIAOSYLCERAMIDE; GLOBOTRIAOSYLSPHINGOSINE; SPHINGOSINE DERIVATIVE; UNCLASSIFIED DRUG;

ACCREDITATION; ALGORITHM; ALPHA GALACTOSIDASE A GENE; ALPHA N ACETYLGALACTOSAMINIDASE GENE; ANAMNESIS; ARTICLE; BLOOD LEVEL; CERTIFICATION; CONSENSUS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; DISEASE COURSE; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME ANALYSIS; EUROPE; FABRY DISEASE; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; INTERMETHOD COMPARISON; LABORATORY DIAGNOSIS; LABORATORY TEST; MEDICAL EXPERT; MUTATIONAL ANALYSIS; PRACTICE GUIDELINE; RECURRENT DISEASE; REFERENCE VALUE; SKIN BIOPSY; STANDARDIZATION;

ALPHA-GALACTOSIDASE; CLINICAL LABORATORY TECHNIQUES; CONSENSUS; DECISION SUPPORT TECHNIQUES; EUROPE; FABRY DISEASE; FEMALE; HUMANS; MALE; MUTATION; SOCIETIES, MEDICAL;

EID: 79955678318     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9261-9     Document Type: Article

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