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First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy.

We investigated the possibility of mucolipidosis type II (ML II) prenatal diagnosis by lysosomal enzyme determination on trophoblast biopsy obtained at 10 weeks of gestation in two pregnancies at risk. Diagnosis of ML II was made in both cases on fresh chorionic villi on the basis of depressed beta-...

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Bibliografske podrobnosti
Main Authors: Poenaru, L, Castelnau, L, Dumez, Y, Thepot, F
Format: Artigo
Jezik:Inglês
Izdano: 1984
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684648/
https://ncbi.nlm.nih.gov/pubmed/6440435
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