Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder that appears to be the most frequent organic aciduria detected in tandem mass spectrometry (TMS)-based neonatal screening programs. The phenotype is variable, ranging from neonatal onset with severe neurolo
โฆ LIBER โฆ
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening
โ Scribed by D. D. Koeberl; D. S. Millington; W. E. Smith; S. D. Weavil; J. Muenzer; S. E. McCandless; P. S. Kishnani; M. T. McDonald; S. Chaing; A. Boney; E. Moore; D. M. Frazier
- Book ID
- 111538397
- Publisher
- Springer
- Year
- 2003
- Tongue
- English
- Weight
- 94 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0141-8955
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## Communicated by Ronald Wanders New technology enables expansion of newborn screening (NBS) of inborn errors aimed to prevent adverse outcome. In conditions with a large share of asymptomatic phenotypes, the potential harm created by NBS must carefully be weighed against benefit. Policies vary t
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