Dried blood spots in the diagnosis of lysosomal storage disorders-Possibilities for newborn screening and high-risk population screening

Clinical Biochemistry

Volumn 44, Issue 7, 2011, Pages 476-467

  Lukacs, Z ^a   Nieves Cobos, P ^a   Keil, A ^a   Hartung, R ^b   Mengel, E ^b   Beck, M ^b   Deschauer, M ^c   Hanisch, F ^c   Santer, R ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Villa Metabolica   (Germany)

^c University of Halle Wittenberge   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; CLINICAL FEATURE; DNA DETERMINATION; ENZYME ACTIVITY; FLUOROMETRY; GENE MUTATION; HIGH RISK POPULATION; HUMAN; LYSOSOME STORAGE DISEASE; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL;

DRIED BLOOD SPOT TESTING; FABRY DISEASE; FLUOROMETRY; GAUCHER DISEASE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; MASS SPECTROMETRY; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; RISK;

EID: 79955145878     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2011.03.008     Document Type: Article

References (0)