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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.

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Authors+Show Affiliations

Holton JB
Department of Clinical Chemistry, Southmead Hospital, Bristol, UK.
Allen JT
No affiliation info available
Gillett MG
No affiliation info available

MeSH

FemaleGalactokinaseGalactoseGalactosemiasHumansPregnancyPrenatal Diagnosis

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 -