Načítá se...
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...
Uloženo v:
| Hlavní autoři: | , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer Berlin Heidelberg
2012
|
| Témata: | |
| On-line přístup: | 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 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|