- Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) geneL Tyfield
The Lewis Laboratories, Southmead Hospital, Bristol, England, United Kingdom
Hum Mutat 13:417-30. 1999..The additional effects of nonallelic variation and other constitutional factors on phenotypic variability remain to be elucidated...
- Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotypeL A Tyfield
Molecular Genetics Unit, The Lewis Laboratories, Southmead Hospital, Bristol, UK
Eur J Pediatr 159:S204-7. 2000..Despite early diagnosis and treatment and adherence to a lactose free diet neurological complications, poor growth and reduced fertility are frequently observed in affected individuals...