Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry

Journal of Pediatrics

Volumn 163, Issue 2, 2013, Pages 498-503

  Scott, C Ronald ^a   Elliott, Susan ^b   Buroker, Norman ^a   Thomas, Lauren I ^a   Keutzer, Joan ^d   Glass, Michael ^b   Gelb, Michael H ^c   Turecek, Frantisek ^c  

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

^b Department of Health   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d GENZYME CORPORATION   (United States)

Author keywords

galactosidase; glucosidase; L iduronidase; CDC; Centers for Disease Control and Prevention; GAA; GLA; IDUA; LSD; Lysosomal storage disease; MPS; MS MS; Mucopolysaccharidosis; PCR; Polymerase chain reaction; QC; Quality control; Tandem mass spectrometry

Indexed keywords

ALPHA GALACTOSIDASE; GLUCAN 1,4 ALPHA GLUCOSIDASE; LEVO IDURONIDASE;

ARTICLE; ENZYME ACTIVITY; FABRY DISEASE; FALSE POSITIVE RESULT; FETUS RISK; GENE FREQUENCY; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HETEROZYGOTE; HUMAN; HURLER SYNDROME; MAJOR CLINICAL STUDY; MALE; NEWBORN; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; RISK ASSESSMENT; TANDEM MASS SPECTROMETRY;

Α-GALACTOSIDASE; Α-GLUCOSIDASE; Α-L-IDURONIDASE; CDC; CENTERS FOR DISEASE CONTROL AND PREVENTION; GAA; GLA; IDUA; LSD; LYSOSOMAL STORAGE DISEASE; MPS; MS/MS; MUCOPOLYSACCHARIDOSIS; PCR; POLYMERASE CHAIN REACTION; QC; QUALITY CONTROL; TANDEM MASS SPECTROMETRY;

FABRY DISEASE; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; MALE; MUCOPOLYSACCHARIDOSIS I; NEONATAL SCREENING; RISK FACTORS; TANDEM MASS SPECTROMETRY;

EID: 84880626481     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2013.01.031     Document Type: Article

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