Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes- possibility for newborn screening

Journal of Inherited Metabolic Disease

Volumn 33, Issue 1, 2010, Pages 43-50

  Lukacs, Zoltan ^a   Nieves Cobos, Paulina ^a   Mengel, Eugen ^b   Hartung, Ralf ^b   Beck, Michael ^b   Deschauer, Marcus ^c   Keil, Angelika ^a   Santer, René ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACARBOSE; ALPHA GLUCOSIDASE;

ADOLESCENT; ADULT; ARTICLE; BLOOD SAMPLING; CELL ASSAY; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ENZYME ACTIVITY; FLUOROMETRY; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; LYMPHOCYTE; NEWBORN SCREENING; PH;

ALPHA-GLUCOSIDASES; BIOPSY; FALSE POSITIVE REACTIONS; FEASIBILITY STUDIES; FIBROBLASTS; FLUOROMETRY; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; HYDROGEN-ION CONCENTRATION; INFANT, NEWBORN; LYMPHOCYTES; MUSCLES; NEONATAL SCREENING; REPRODUCIBILITY OF RESULTS; TIME FACTORS;

EID: 77649231614     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9003-z     Document Type: Article

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