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Asymptomatic Maternal Combined Homocystinuria and Methylmalonic Aciduria (cblC) Detected Through Low Carnitine Levels on Newborn Screening

Overview
Journal J Pediatr
Specialty Pediatrics
Date 2009 Nov 17
PMID 19914430
Citations 17
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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.

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