Newborn Screening for Pompe Disease by Measuring Acid α-Glucosidase Activity Using Tandem Mass Spectrometry

Pompe disease, caused by the deficiency of acid alpha-glucosidase (GAA), is a lysosomal storage disorder that manifests itself in its most severe form within the first months of life. Early detection by newborn screening is warranted, since prompt initiation of enzyme replacement therapy may improve...

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Veröffentlicht in:	Clinical chemistry (Baltimore, Md.) Md.), 2008-10, Vol.54 (10), p.1624-1629
Hauptverfasser:	DAJNOKI, Angéla, MÜHL, Adolf, FEKETE, György, KEUTZER, Joan, ORSINI, Joe, DEJESUS, Victor, ZHANG, X. Kate, BODAMER, Olaf A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult alpha-Glucosidases - blood Analytical, structural and metabolic biochemistry Biological and medical sciences Case-Control Studies Fundamental and applied biological sciences. Psychology Glycogen Storage Disease Type II - diagnosis Glycogen Storage Disease Type II - enzymology Humans Infant, Newborn Investigative techniques, diagnostic techniques (general aspects) Medical sciences Neonatal Screening Tandem Mass Spectrometry - methods
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