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- Title
The impact of screening for propionic and methylmalonic acidaemia.
- Authors
Leonard, James V; Vijayaraghavan, Suresh; Walter, John H
- Abstract
The outcome of the severe variants of propionic and methylmalonic acidaemia is not good. Patients with these disorders have increased concentrations of propionylcarnitine and using tandem mass spectrometry to detect this compound, it is possible to screen in the newborn period. Various criteria have been used to identify the patients but only a small number of patients have been diagnosed so far and some have been missed. Furthermore many will have already presented before the result of the screening test is available.
- Publication
European journal of pediatrics, 2003, Vol 162 Suppl 1, pS21
- ISSN
0340-6199
- Publication type
Journal Article
- DOI
10.1007/s00431-003-1345-1