लोड हो रहा है...
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...
में बचाया:
| मुख्य लेखकों: | , , , |
|---|---|
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Springer Berlin Heidelberg
2012
|
| विषय: | |
| ऑनलाइन पहुंच: | 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 |
| टैग : |
टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!
|