Determination of the lysosomal hydrolase activity in blood collected on filter paper, an alternative to screen high risk populations

Gene

Volumn 536, Issue 2, 2014, Pages 344-347

  Castilhos, Cristina D ^a   Mezzalira, Jamila ^a   Goldim, Mariana P S ^a   Daitx, Vanessa V ^a   Garcia, Cristina da S ^a   Andrade, Carla V ^a   Breier, Ana C ^a   Cé, Jaqueline ^a   Mello, Alexandre S ^a   Coelho, Janice C ^a  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

Author keywords

Dried blood spots on filter paper; Lysosomal storage diseases; Screening high risk populations

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA GLUCOSIDASE; ARYLSULFATASE; HYDROLASE; LEVO IDURONIDASE; LYSOSOME ENZYME;

ADULT; ARTICLE; BLOOD FILTER; BLOOD SAMPLING; BONE PAIN; CEREBROVASCULAR ACCIDENT; CONTROLLED STUDY; DIAGNOSTIC EQUIPMENT; DIAGNOSTIC TEST ACCURACY STUDY; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; ENZYME ASSAY; EYE DISEASE; FABRY DISEASE; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; GLYCOGEN STORAGE DISEASE TYPE 2; HEART FAILURE; HEAT INTOLERANCE; HEMANGIOKERATOMA; HEPATOSPLENOMEGALY; HIGH RISK POPULATION; HUMAN; HUMAN TISSUE; HURLER SYNDROME; INFANT; KIDNEY FAILURE; LEUKOCYTE; LIMB PAIN; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MUCOPOLYSACCHAROSIS TYPE 6; MUSCLE HYPOTONIA; PRIORITY JOURNAL; REFERENCE VALUE; SCREENING TEST;

ALPHA-GALACTOSIDASE A; ALPHA-GLUCOSIDASE; ALPHA-IDURONIDASE; ARYLSULPHATASE B; ASB; DBS; DRIED BLOOD SPOTS COLLECTED ON FILTER PAPER; DRIED BLOOD SPOTS ON FILTER PAPER; GAA; GAL; IDUA; LC/MS/MS; LIQUID CHROMATOGRAPHY COMBINED WITH TANDEM MASS SPECTROMETRY; LSDS; LYSOSOMAL STORAGE DISEASES; LYSOSOMAL STORAGE DISORDERS; MPS I; MPS VI; MUCOPOLYSACCHARIDOSIS TYPE I; MUCOPOLYSACCHAROSIS TYPE VI; RECEIVER OPERATING CHARACTERISTICS; ROC; SCREENING HIGH RISK POPULATIONS;

BLOOD SPECIMEN COLLECTION; FEMALE; HUMANS; HYDROLASES; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; MALE; MASS SCREENING;

EID: 84892433436     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.11.101     Document Type: Article

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