Abbreviations
- MCAD :
-
medium chain acyl-CoA dehydrogenase
References
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Gregersen N, Winter V, Curtis D, Deufel T, et al (1993) Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. Hum Hered 43(6): 342–350
Matsubara Y, Narisawa K, Miyabayashi S, Tada K, Coates PM (1990) Molecular lesion in patients with medium chain acyl-CoA dehydrogenase deficiency. Lancet 335:1589
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Szalai, C., Czinner, A. & Révai, K. The frequency of medium-chain acyl-CoA dehydrogenase G985 mutation in the Hungarian population. Eur J Pediatr 155, 256 (1996). https://doi.org/10.1007/BF01953952
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DOI: https://doi.org/10.1007/BF01953952