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A retrospective study on the clinical features and gene mutations of neonatal homocystinuria

A retrospective study on the clinical features and gene mutations of neonatal homocystinuria

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2100048045
Enrollment
Unknown
Registered
2021-06-28
Start date
2021-07-01
Completion date
Unknown
Last updated
2022-03-07

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

Conditions

Homocystinuria

Interventions

Case series:Nil

Sponsors

The Seventh Medical Center of PLA General Hospital
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: 1. Onset time: birth <=28 days; 2. Neonates with clinical manifestations of homocystinuria and receiving diagnosis and treatment in our hospital; 3. Conduct a genetic analysis.

Exclusion criteria

Exclusion criteria: No clinical manifestations.

Design outcomes

Primary

MeasureTime frame
Clinical featrues;—

Countries

China

Contacts

Public ContactHan Tao

Department of Neonatology, Faculty of Pediatrics, the Seventh Medical Center of PLA General Hospital

hant8316@163.com+86 15210189796

Outcome results

None listed

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