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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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Detalhes bibliográficos
Main Authors: Lee, Sun Hee, Hong, Yong Hee
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Pediatric Society 2014
Assuntos:
Acesso em linha: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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