6533b823fe1ef96bd127f64a
RESEARCH PRODUCT
Prenatal diagnosis of mucolipidosis II (I-cell disease)
J. GehlerJürgen W. SprangerM. StoeckeniusMichael Cantzsubject
medicine.medical_specialtyAmniotic fluidHydrolasesPrenatal diagnosisSulfur RadioisotopesAndrologyGlycosaminoglycanPregnancyPrenatal DiagnosisInternal medicinemedicineHumansRadiology Nuclear Medicine and imagingCells CulturedGlycosaminoglycansPregnancyFetusbusiness.industryMucolipidosisAborted FetusGeneral MedicineMucopolysaccharidosesAmniotic Fluidmedicine.diseaseEndocrinologyPediatrics Perinatology and Child HealthFemaleI-cell diseaseLysosomesbusinessdescription
A pregnancy at risk for mucolipidosis II (I-cell disease) was monitored in which an affected fetus was predicted on the basis of the analyses of lysosomal hydrolases in amniotic fluid and cultured amniotic fluid cells, and by the demonstration of an excessive accumulation of [35S] sulfate-labeled glycosaminoglycans in cultured amniotic cells. This diagnosis was confirmed by performing enzyme assays and [35S] sulfate incorporation studies on material derived from the aborted fetus.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1976-06-08 | European Journal of Pediatrics |