Mutations in any of the three different genes BCKDHA, BCKDHB, and DBT encoding for the E1alpha, E1beta, and E2 catalytic components of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex can cause maple syrup urine disease (MSUD). The disease presents heterogeneous clinical and molecular
✦ LIBER ✦
Mutational spectrum of classical galactosaemia in Spain and Portugal
✍ Scribed by L. Gort; M. D. Boleda; L. Tyfield; L. Vilarinho; I. Rivera; M. L. Cardoso; M. Santos-Leite; M. Girós; P. Briones
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 176 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0141-8955
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This paper is dedicated to Prof. Carlos da Silveira as a pioner of the studies on inborn enors of metabolism in Portugal, on the occasion of his Jubilee.