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Article

Experience in prenatal diagnosis of primary hyperoxaluria type 1.

Journal of nephrology - 1 Jan 2000

Rumsby G

Abstract excerpt

Prenatal diagnosis of primary hyperoxaluria type 1 (PH1) using DNA-based techniques has been performed in 22 pregnancies from 21 families to date. The outcome of these diagnoses were: 2 affected, 14 carriers and 4 normal fetuses. In 2 families, only partially informative at the time of testing, a clear diagnosis could not be made and in one of these cases the presence of disease could not be excluded. The...

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PMID: 9604802

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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