Lanean...
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report
Dihydropteridine reductase (DHPR) deficiency is a genetic disorder of tetrahydrobiopterin (BH4) regeneration and may present with hyperphenylalaninemia, microcephaly, hypotonia, mental retardation, and convulsions. BH4 is an essential cofactor for the hydroxylation of aromatic amino acids and a defi...
Gorde:
| Egile Nagusiak: | , , , |
|---|---|
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Springer Berlin Heidelberg
2012
|
| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3755580/ https://ncbi.nlm.nih.gov/pubmed/23430801 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_202 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|