Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes

Pediatric Nephrology

Volumn 23, Issue 9, 2008, Pages 1461-1471

  Kitagawa, Teruo ^a   Suzuki, Ken ^a   Ishige, Nobuyuki ^a   Ohashi, Toya ^b   Kobayashi, Masahisa ^b   Eto, Yoshikatsu ^b   Tanaka, Akemi ^c   Odaka, Hideo ^d   Owada, Misao ^e  

^a Tokyo Association of Health Service   (Japan)

^b JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d Odaka Clinic   (Japan)

^e KAGAWA NUTRITION UNIVERSITY   (Japan)

Author keywords

Alpha galactosidase Aprotein; Enzyme linked immunosorbent assay (ELISA); Globotriaosylceramide; Renal failure; Tandem mass spectrometry; Urine screening; Variant type Fabry disease

Indexed keywords

ALPHA GALACTOSIDASE; BIOLOGICAL MARKER; GLOBOTRIAOSYLCERAMIDE;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE PREDISPOSITION; ENZYME LINKED IMMUNOSORBENT ASSAY; FABRY DISEASE; FEMALE; HEMIZYGOTE; HETEROZYGOTE DETECTION; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MALE; NON INVASIVE MEASUREMENT; PILOT STUDY; PRIORITY JOURNAL; PROTEIN URINE LEVEL; RISK ASSESSMENT; SCREENING TEST; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY;

ADOLESCENT; ADULT; AGED; ALPHA-GALACTOSIDASE; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; FABRY DISEASE; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; PILOT PROJECTS; TRIHEXOSYLCERAMIDES;

EID: 47749085854     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-0846-6     Document Type: Article

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