3-Methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry in mexican population.
Tandem mass spectrometry (MS/MS) was introduced to expand newborn screening in Nuevo Leon, Mexico. This has permitted an increase in the diagnosis of many metabolic disorders including isolated 3 methylcrotonyl CoA carboxylase deficiency (3 MCC). Detection of an elevation of C5OH by MS/MS is associ...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Masson Doyma México, S.A
2009
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| Online Access: | http://eprints.uanl.mx/8261/1/3MethylcrotonylCoA.pdf |