Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: Application to screening newborns for mucopolysaccharidosis I

Clinical Chemistry

Volumn 54, Issue 12, 2008, Pages 2067-2070

  Blanchard, Sophie ^a   Sadilek, Martin ^a   Scott, C Ronald ^b   Turecek, Frantisek ^a   Gelb, Michael H ^a,b  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEVO IDURONIDASE; LYSOSOME ENZYME;

ACCURACY; ANALYTIC METHOD; ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME ASSAY; FLUOROMETRY; HUMAN; LIQUID LIQUID EXTRACTION; MUCOPOLYSACCHARIDOSIS; NEWBORN; NEWBORN SCREENING; PH; TANDEM MASS SPECTROMETRY;

FLUOROMETRY; HUMANS; IDURONIDASE; INFANT, NEWBORN; LYSOSOMES; MUCOPOLYSACCHARIDOSIS I; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY;

EID: 57149095933     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2008.115410     Document Type: Article

References (8)

1. Wraith JE. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 2005;6:489-506.
2. Krivit W, Aubourg P, Shapiro E, Peters C. Bone marrow transplantation for globoid cell leukodystrophy, adrenoeukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr Opin Hematol 1999;6:377-82.
3. Wang D, Eadala B, Sadilek M, Chamoles NA, Turecek F, Scott CR, Gelb MH. Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem 2005;51:898-900.
4. Chamoles NA, Blanco M, Gaggioli D. Diagnosis of α-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis. Clin Chem 2001;47:780-1.
5. Garg U, Dasouki M. Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects. Clin Biochem 2006;39:315-32.
6. Chace DH, Kalas TA, Naylor EW. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 2003;49:1797-817.
7. Li Y, Brockmann, Turecek F, Scott CR, Gelb MH. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem 2004;50:638-40.
8. Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 2004;50:1785-96.