Lysosomal storage disorder screening implementation: Findings from the first six months of full population pilot testing in Missouri

Journal of Pediatrics

Volumn 166, Issue 1, 2015, Pages 172-177

  Hopkins, Patrick V ^a   Campbell, Carlene ^a   Klug, Tracy ^a   Rogers, Sharmini ^a   Raburn Miller, Julie ^a   Kiesling, Jami ^a  

^a Missouri Public Health Laboratory   (United States)

Author keywords

DBS Dried blood spot; GAA Acid glucosidase; GBA Acid D glucosidase; GLA Acid galactosidase; IDUA Acid L iduronidase; LSD Lysosomal storage disorder; MPS I Mucopolysaccharidosis type I; MSPHL Missouri State Public Health Laboratory; NBS Newborn bloodspot screening; PPV Positive predictive value

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DRIED BLOOD SPOT TESTING; FABRY DISEASE; FEMALE; FLUOROMETRY; FOLLOW UP; GAUCHER DISEASE; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HURLER SYNDROME; LYSOSOME STORAGE DISEASE; MALE; MICROFLUIDICS; NEWBORN; NEWBORN SCREENING; PILOT STUDY; PREDICTIVE VALUE; PRIORITY JOURNAL; UNITED STATES; GLYCOGEN STORAGE DISEASE TYPE II; LYSOSOMAL STORAGE DISEASES; MUCOPOLYSACCHARIDOSIS I; PROCEDURES;

FABRY DISEASE; FEMALE; FLUOROMETRY; GAUCHER DISEASE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; MALE; MICROFLUIDICS; MISSOURI; MUCOPOLYSACCHARIDOSIS I; NEONATAL SCREENING; PILOT PROJECTS; PREDICTIVE VALUE OF TESTS;

EID: 84922115314     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2014.09.023     Document Type: Article

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