Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2015_429
Reference24 articles.
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4. Carrillo-Carrasco N, Chandler RJ, Venditti CP (2011) Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. J Inherit Metab Dis 35:91–102. doi: 10.1007/s10545-011-9364-y
5. Chace DH, DiPerna JC, Kalas TA et al (2001) Rapid diagnosis of methylmalonic and propionic acidemias quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clin Chem 47:2040–2044
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