Long-term prognosis in galactosaemia: results of a survey of 350 cases
- PMID: 1706789
- DOI: 10.1007/BF01800204
Long-term prognosis in galactosaemia: results of a survey of 350 cases
Abstract
An international survey of the long term results of treating galactosaemia has shown poor results. These do not seem to be related to any of the relevant variables studied, for example delayed diagnosis or poor dietary compliance.
Similar articles
-
Clouds still gathering over galactosaemia.Lancet. 1994 Nov 5;344(8932):1242-3. doi: 10.1016/s0140-6736(94)90745-5. Lancet. 1994. PMID: 7526095 No abstract available.
-
Ophthalmic findings in classical galactosaemia--prospective study.Br J Ophthalmol. 1993 Mar;77(3):162-4. doi: 10.1136/bjo.77.3.162. Br J Ophthalmol. 1993. PMID: 8457508 Free PMC article.
-
Long-term outcome in 134 patients with galactosaemia.Eur J Pediatr. 1993 Jan;152(1):36-43. doi: 10.1007/BF02072514. Eur J Pediatr. 1993. PMID: 8444204
-
Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia.Eur J Pediatr. 2003 Dec;162 Suppl 1:S50-3. doi: 10.1007/s00431-003-1352-2. Epub 2003 Nov 12. Eur J Pediatr. 2003. PMID: 14614623 Review.
-
Galactosaemia.Nutr Health. 1987;5(3-4):175-88. doi: 10.1177/026010608700500408. Nutr Health. 1987. PMID: 3328119 Review.
Cited by
-
Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.Hum Mutat. 2012 Jul;33(7):1107-15. doi: 10.1002/humu.22093. Epub 2012 Apr 30. Hum Mutat. 2012. PMID: 22461411 Free PMC article.
-
Molecular analysis of 11 galactosemia patients.Nucleic Acids Res. 1991 Dec;19(25):7049-52. doi: 10.1093/nar/19.25.7049. Nucleic Acids Res. 1991. PMID: 1766867 Free PMC article.
-
Body composition in children with galactosaemia.J Inherit Metab Dis. 2005;28(6):931-7. doi: 10.1007/s10545-005-0189-4. J Inherit Metab Dis. 2005. PMID: 16435185
-
Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinics.J Genet Couns. 2011 Apr;20(2):192-203. doi: 10.1007/s10897-010-9337-6. Epub 2011 Jan 6. J Genet Couns. 2011. PMID: 21210198
-
A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine.J Inherit Metab Dis. 1997 Aug;20(4):549-55. doi: 10.1023/a:1005357622551. J Inherit Metab Dis. 1997. PMID: 9266391 Clinical Trial.
References
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical