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Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder
Fructose-1,6-diphosphatase (FDPase) deficiency is usually considered an inborn error of fructose metabolism, however, strictly speaking it is a defect of gluconeogenesis. The disorder is manifested by the appearance of hypoglycaemia, ketosis and lactic acidosis (neonatally or later during fasting or...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4173192/ https://ncbi.nlm.nih.gov/pubmed/25246452 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-201553 |
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