A carregar...
A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly
β-Ureidopropionase deficiency (OMIM #613161) is a rare autosomal recessive inborn error of metabolism due to mutations in the UPB1 gene, which encodes the third enzyme involved in the pyrimidine degradation pathway. A total of 28 cases have been reported, mainly presenting with seizures, microcephal...
Na minha lista:
| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4501230/ https://ncbi.nlm.nih.gov/pubmed/25638458 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_379 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|