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Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure
Deoxyguanosine kinase deficiency (dGK) is a frequent cause of the hepatocerebral form of mitochondrial depletion syndrome (MDS). A group of 28 infants with severe progressive liver failure of unknown cause was recruited for post mortem search for deoxyguanosine kinase (DGUOK) gene mutations. Four af...
में बचाया:
मुख्य लेखकों: | , , , , , , , , , , , , |
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स्वरूप: | Artigo |
भाषा: | Inglês |
प्रकाशित: |
Springer-Verlag
2010
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विषय: | |
ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3026684/ https://ncbi.nlm.nih.gov/pubmed/21107780 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-010-0008-y |
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