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Sodium pyruvate therapy for the patients with citrin deficiency

Not Applicable
Completed
Conditions
citrin deficiency
Registration Number
JPRN-UMIN000008528
Lead Sponsor
Department of Pediatrics, Kobe university Graduate School of Medicine
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Complete: follow-up complete
Sex
All
Target Recruitment
6
Inclusion Criteria

Not provided

Exclusion Criteria

pregnant woman

Study & Design

Study Type
Interventional
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Adult onset type II citrullinemia 1) improvement of citrulllinemia and hyperannmonemia 2) improvement of impaired consciousness 3) improvement of QOL Compensation period 1) improvement of citrulllinemia and oxidative stress 2) improvement of QOL 3) improvement of appetite habit Neonatal intrehepatic cholestasis caused by citrin deficincy 1) improvement of cholestasis and citrullinemia 2) catch up of body weight
Secondary Outcome Measures
NameTimeMethod
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