Screening patients referred to a metabolic clinic for lysosomal storage disorders

Journal of Medical Genetics

Volumn 48, Issue 6, 2011, Pages 422-425

  Fuller, Maria ^a   Tucker, Justin N ^a   Lang, Debbie L ^a   Dean, Caroline J ^a   Fietz, Michael J ^a   Meikle, Peter J ^b   Hopwood, John J ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA GLUCOSIDASE; ALPHA N ACETYLGLUCOSAMINIDASE; BETA GLUCOSIDASE; BIOLOGICAL MARKER; CD45 ANTIGEN; CEREBROSIDE SULFATASE; CHITOTRIOSIDASE; IDURONATE 2 SULFATASE; LEVO IDURONIDASE; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; LYSOSOME ENZYME; N ACETYLGALACTOSAMINE 4 SULFATASE; N SULFAMIDASE; SPHINGOLIPID ACTIVATOR PROTEIN; SPHINGOMYELIN PHOSPHODIESTERASE; SULFATASE; UNCLASSIFIED DRUG;

ARTICLE; CONCENTRATION (PARAMETERS); DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; ENZYME ACTIVITY; FABRY DISEASE; FALSE NEGATIVE RESULT; FEMALE; GAUCHER DISEASE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; IMMUNOLOGICAL PROCEDURES; MAJOR CLINICAL STUDY; MALE; MAROTEAUX LAMY SYNDROME; METACHROMATIC LEUKODYSTROPHY; MICROBEAD SUSPENSION ARRAY TECHNOLOGY; MUCOLIPIDOSIS TYPE 2; MUCOLIPIDOSIS TYPE 3; MULTIPLE SULFATASE DEFICIENCY; MULTIPLEX IMMUNE QUANTIFICATION; MUTATIONAL ANALYSIS; ONE PLEX IMMUNE QUANTIFICATION; PRIORITY JOURNAL; PROTEIN MICROARRAY; SANFILIPPO SYNDROME; SCREENING; SENSITIVITY AND SPECIFICITY;

ALPHA-GALACTOSIDASE; AUSTRALIA; CHILD; CLINICAL ENZYME TESTS; FEMALE; GENETIC HETEROGENEITY; GLYCOSAMINOGLYCANS; HEXOSAMINIDASES; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; IDURONATE SULFATASE; IMMUNOCHEMISTRY; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; MALE; MASS SCREENING; MUTATION; PROTEINS; SENSITIVITY AND SPECIFICITY;

EID: 79958026393     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.088096     Document Type: Article

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