FindTrial
Sign In

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

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

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2100048046
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

Ethylmalonic aciduria

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 ethylmalonic aciduria and receiving diagnosis and treatment in our hospital; 3. Genetic analysis was performed.

Exclusion criteria

Exclusion criteria: No clinical manifestations.

Design outcomes

Primary

MeasureTime frame
Clinical features;Gene analysis;—

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