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Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk

We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrometry (LC-MS/MS), but normal results were found on...

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Detalles Bibliográficos
Autores principales:	Cho, Kyung Lae, Kim, Yeo Jin, Yang, Song Hyun, Kim, Gu-Hwan, Lee, Jun Hwa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Pediatric Society 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177709/ https://www.ncbi.nlm.nih.gov/pubmed/28018443 http://dx.doi.org/10.3345/kjp.2016.59.11.S41

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