TY  - GEN
AU  - Bosch,A M
AU  - Waterham,H R
AU  - Bakker,H D
TI  - [From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]
SN  - 0028-2162
PY  - 2004///0406
KW  - Galactosemias
KW  - complications
KW  - Genes, Recessive
KW  - Humans
KW  - Mutation, Missense
KW  - Pedigree
KW  - UTP-Hexose-1-Phosphate Uridylyltransferase
KW  - deficiency
N1  - Publication Type: English Abstract; Journal Article; Review
ER  -