Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.
A patient suffering from a combined deficiency of sulfite oxidase (sulfite dehydrogenase; sulfite:ferricytochrome c oxidoreductase, EC 1.8.2.1) and xanthine dehydrogenase (xanthine:NAD+ oxidoreductase, EC 1.2.1.37) is described. The patient displays severe neurological abnormalities, dislocated ocul...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Proc Natl Acad Sci U S A |
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| Prif Awduron: | , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
National Academy of Sciences
1980
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC349689/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6997882/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.77.6.3715 |
| Tagiau: |
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
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