| Literature DB >> 19914430 |
Henry J Lin1, Julie A Neidich, Denise Salazar, Evangela Thomas-Johnson, Barbara F Ferreira, Alan M Kwong, Amy M Lin, Adam J Jonas, Steven Levine, Fred Lorey, David S Rosenblatt.
Abstract
A symptom-free woman gave birth to a girl with a low carnitine level on newborn screening. The baby was unaffected, but the mother had biochemical abnormalities and mutations characteristic of the cblC defect of vitamin B(12) metabolism (late-onset form). This patient with cblC was detected through her infant's newborn screening.Entities:
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Year: 2009 PMID： 19914430 DOI： 10.1016/j.jpeds.2009.06.046
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406