Journal
JOURNAL OF PEDIATRICS
Volume 155, Issue 6, Pages 924-927Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2009.06.046
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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.
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