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Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research
BACKGROUND: Clinical outcome of patients with a classical presentation of galactosemia (classical patients) varies substantially, even between patients with the same genotype. With current biomarkers, it is not possible to predict clinical outcome early in life. The aim of this study was to develop...
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| Опубликовано в: : | Orphanet J Rare Dis |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2018
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6109347/ https://ncbi.nlm.nih.gov/pubmed/30143026 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0888-1 |
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