Publications by authors named "Barbara F Ferreira"

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Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.

J Pediatr 2009 Dec;155(6):924-7

Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA.

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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http://dx.doi.org/10.1016/j.jpeds.2009.06.046DOI Listing
December 2009