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Pregnancy in an adolescent with maple syrup urine disease: Case report
Maple syrup urine disease (MSUD, MIM #248600) is an autosomal recessive metabolic disorder that results in elevation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine. Elevation of BCAA and certain alpha keto-acids is associated with a catabolic state and may result in neurolo...
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| Опубликовано в: : | Mol Genet Metab Rep |
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| Главные авторы: | , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Elsevier
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8042167/ https://ncbi.nlm.nih.gov/pubmed/33868929 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100745 |
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