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Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels
Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by mutations in the G6PC gene, encoding the catalytic subunit of glucose-6-phosphatase. Early symptoms include severe fasting intolerance, failure to thrive and hepatomegaly, biochemically associated with nonketotic hy...
में बचाया:
| में प्रकाशित: | Hum Mol Genet |
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| मुख्य लेखकों: | , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Oxford University Press
2020
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7001719/ https://ncbi.nlm.nih.gov/pubmed/31813960 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz283 |
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