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First trimester diagnosis of cystinosis using intact chorionic villi.

Abstract
Cystinosis was diagnosed in the first trimester of pregnancy by studies of uptake and retention of [35S]-cystine by intact biopsy samples of chorionic villi. The diagnosis was confirmed by similar studies on cell cultures of villi and fetal skin fibroblasts.
AuthorsA D Patrick, E P Young, J Mossman, R Warren, L Kearney, C H Rodeck
JournalPrenatal diagnosis (Prenat Diagn) Vol. 7 Issue 2 Pg. 71-4 (Feb 1987) ISSN: 0197-3851 [Print] England
PMID3575264 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Sulfur Radioisotopes
  • Cystine
Topics
  • Autoradiography
  • Chorionic Villi (analysis)
  • Cystine (analysis)
  • Cystinosis (diagnosis)
  • Female
  • Fetal Diseases (diagnosis)
  • Humans
  • Pregnancy
  • Pregnancy Trimester, First
  • Prenatal Diagnosis
  • Sulfur Radioisotopes

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