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Molecular Diagnostic Study and Clinical Management of citrin deficiency

Molecular Diagnostic Study and Clinical Management of citrin deficiency

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2000038114
Enrollment
Unknown
Registered
2020-09-11
Start date
2020-09-15
Completion date
Unknown
Last updated
2020-11-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Citrin deficiency

Interventions

Gold Standard:Sanger sequncing
Index test:Next-Generation&#32
Sequncing

Sponsors

Beijing Friendship Hospital Affiliated to Capital Medical University
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: 1. Patients suspected of CD according to clinical manifestations, physical signs, biochemistry, liver pathology, imaging and metabonomics; 2. Obtain the informed consent of patients.

Exclusion criteria

Exclusion criteria: 1. Children with other genetic metabolic liver diseases have been identified; 2. Patients whose parents refused to participate in the study.

Design outcomes

Primary

MeasureTime frame
Gene mutation;—

Secondary

MeasureTime frame
Blood biochemistry;Blood ammonia;Afetoprotein;Blood mass spectrometry analysis;Urine mass spectrometry;—

Countries

China

Contacts

Public ContactZhong Xuemei

Capital Institute of Pediatrics

zhongxuemei@shouer.com.cn+86 10 85695627

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026