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Asymptomatic maternal 3-methylcrotonylglycinuria detected by her unaffected baby's neonatal screening test
3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels for...
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| Main Authors: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The Korean Pediatric Society
2014
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4127396/ https://ncbi.nlm.nih.gov/pubmed/25114694 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2014.57.7.329 |
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