Lanean...
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency
Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the first days of life and manifests with a variety of severe symptoms. However, an index of suspicion for additional or alternative diagn...
Gorde:
| Argitaratua izan da: | BMJ Case Rep |
|---|---|
| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMJ Publishing Group
2021
|
| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8016098/ https://ncbi.nlm.nih.gov/pubmed/33789861 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-241032 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|