Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria

The Lancet

Volumn 379, Issue 9813, 2012, Pages 335-341

  Mechtler, Thomas P ^a   Stary, Susanne ^a   Metz, Thomas F ^a   De Jesús, Víctor R ^b   Greber Platzer, Susanne ^a   Pollak, Arnold ^a   Herkner, Kurt R ^a   Streubel, Berthold ^a   Kasper, David C ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA GLUCOSIDASE; GLUCOSYLCERAMIDASE; SPHINGOMYELIN PHOSPHODIESTERASE;

ARTICLE; AUSTRIA; EARLY DIAGNOSIS; ELECTROSPRAY MASS SPECTROMETRY; ENZYME ACTIVITY; FABRY DISEASE; FEASIBILITY STUDY; FEMALE; GAUCHER DISEASE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INCIDENCE; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY;

EID: 84856368463     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(11)61266-X     Document Type: Article

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