Studies of mass infant screening for Wilson disease by urinary ceruloplasmin.
Southeast Asian J Trop Med Public Health
;
1999 ; 30 Suppl 2(): 149-50
Article
in English
| IMSEAR
| ID: sea-35872
ABSTRACT
We found a 4-year-old boy in the screened cohort, who showed a low ceruloplasmin (CP) in urine (17 ng/mg-creatinine) and in blood (0.6 mg/dl), but his urine copper was in the normal range. Furthermore this child was diagnosed as Wilson disease (WD) by genetic analysis. Although no significant correlation was observed between urine and blood levels of CP, it is conceivable that WD may be accompanied by very low concentration of urine CP.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Male
/
Ceruloplasmin
/
Child, Preschool
/
Mass Screening
/
Copper
/
Hepatolenticular Degeneration
Type of study:
Diagnostic study
/
Prognostic study
/
Screening study
Language:
English
Journal:
Southeast Asian J Trop Med Public Health
Year:
1999
Type:
Article
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