Response to chen et Al.: carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.


Chen et al. (2013) provide their experience and very useful comments about our manuscript “Genotype–Phenotype Correlation in Primary Carnitine Deficiency” [Rose et al., 2012]. Our manuscript indicated that, on average, cells obtained from mothers diagnosed with primary carnitine deficiency because of an abnormal newborn screening in their infants had higher… (More)
DOI: 10.1002/humu.22285


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