[Evaluation of the safety, clinical and cost-effectiveness of neonatal screening for type 1 citrullinaemia, trifunctional protein deficiency, holocarboxyl synthetase deficiency, argininosuccinic aciduria and 3-methylcrotonyl-CoA carboxylase deficiency]
Record ID 32018014361
Spanish
Original Title:
Evaluación de la seguridad, la efectividad clínica y económica del cribado neonatal de citrulinemia tipo 1, deficiencia de la proteína trifuncional, deficiencia de holocarboxilas sintetasa, aciduria argininosuccínica y deficiencia de 3-metilcrotonil-CoA carboxilasa.
Details
Project Status:
Ongoing
Anticipated Publish Date:
2026
English language abstract:
There is no English language summary available
Publication Type:
Not Assigned
Country:
Spain
MeSH Terms
- Citrullinemia
- Mitochondrial Trifunctional Protein
- Argininosuccinic Aciduria
- Neonatal Screening
- Infant, Newborn
- Metabolism, Inborn Errors
- Amino Acid Metabolism, Inborn Errors
- Metabolic Diseases
Contact
Organisation Name:
Agència de Qualitat i Avaluació Sanitàries de Catalunya (AQuAS)
Contact Address:
Carrer de Roc Boronat, 81-95 (2a planta) ES-08005 Barcelona Spain
Contact Email:
atiq.aquas@gencat.cat
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