Stable Isotope Dilution Analysis of Galactitol in Amniotic Fluid: an Accurate Approach to the Prenatal Diagnosis of Galactosemia
- 1 August 1984
- journal article
- research article
- Published by Springer Nature in Pediatric Research
- Vol. 18 (8), 714-718
- https://doi.org/10.1203/00006450-198408000-00007
Abstract
Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies.Keywords
This publication has 3 references indexed in Scilit:
- Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.Archives of Disease in Childhood, 1981
- Gas-liquid chromatographic determination of galactitol in amniotic fluid for possible use in prenatal diagnosis of galactosaemiaClinica Chimica Acta; International Journal of Clinical Chemistry, 1981
- Pitfalls in the prenatal diagnosis of propionic acidemiaClinical Genetics, 1980