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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...
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| Huvudupphovsmän: | , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Springer Berlin Heidelberg
2012
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| Ämnen: | |
| Länkar: | 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 |
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