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01-12-2003 | Article

The impact of screening for propionic and methylmalonic acidaemia

Authors: James V. Leonard, Suresh Vijayaraghavan, John H. Walter

Published in: European Journal of Pediatrics | Special Issue 1/2003

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. Conclusion:it is not yet clear whether the outcome is better for those identified in screening programmes.

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Title: The impact of screening for propionic and methylmalonic acidaemia
Authors: James V. Leonard
Suresh Vijayaraghavan
John H. Walter
Publication date: 01-12-2003
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue Special Issue 1/2003
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-003-1345-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

The impact of screening for propionic and methylmalonic acidaemia

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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