Prenatal diagnosis of disorders of galactose metabolism.J Inherit Metab Dis. 1989; 12 Suppl 1:202-6.JI
Abstract
Of three clinically significant galactose disorders, there is only a real need and experience of prenatal diagnosis in classical galactosaemia. Prenatal diagnosis for this disorder may be carried out by galactose-1-phosphate uridyl transferase assay in cultured amniotic fluid cells or in chorionic villus biopsies and by galactitol estimation in amniotic fluid supernatant. Although the long-term outcome of patients treated on a galactose-restricted diet is recognized to be unsatisfactory, prenatal diagnosis is only rarely performed with a view to terminating the affected pregnancy.
Links
Pub Type(s)
Journal Article
Review
Language
eng
PubMed ID
2509807
Citation
Holton, J B., et al. "Prenatal Diagnosis of Disorders of Galactose Metabolism." Journal of Inherited Metabolic Disease, vol. 12 Suppl 1, 1989, pp. 202-6.
Holton JB, Allen JT, Gillett MG. Prenatal diagnosis of disorders of galactose metabolism. J Inherit Metab Dis. 1989;12 Suppl 1:202-6.
Holton, J. B., Allen, J. T., & Gillett, M. G. (1989). Prenatal diagnosis of disorders of galactose metabolism. Journal of Inherited Metabolic Disease, 12 Suppl 1, 202-6.
Holton JB, Allen JT, Gillett MG. Prenatal Diagnosis of Disorders of Galactose Metabolism. J Inherit Metab Dis. 1989;12 Suppl 1:202-6. PubMed PMID: 2509807.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Prenatal diagnosis of disorders of galactose metabolism.
AU - Holton,J B,
AU - Allen,J T,
AU - Gillett,M G,
PY - 1989/1/1/pubmed
PY - 1989/1/1/medline
PY - 1989/1/1/entrez
SP - 202
EP - 6
JF - Journal of inherited metabolic disease
JO - J Inherit Metab Dis
VL - 12 Suppl 1
N2 - Of three clinically significant galactose disorders, there is only a real need and experience of prenatal diagnosis in classical galactosaemia. Prenatal diagnosis for this disorder may be carried out by galactose-1-phosphate uridyl transferase assay in cultured amniotic fluid cells or in chorionic villus biopsies and by galactitol estimation in amniotic fluid supernatant. Although the long-term outcome of patients treated on a galactose-restricted diet is recognized to be unsatisfactory, prenatal diagnosis is only rarely performed with a view to terminating the affected pregnancy.
SN - 0141-8955
UR - https://www.unboundmedicine.com/medline/citation/2509807/Prenatal_diagnosis_of_disorders_of_galactose_metabolism_
L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=1989&volume=12&issue=&spage=202
DB - PRIME
DP - Unbound Medicine
ER -