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Article

Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance.

Urological research - 1 Dec 2008

Mandrile G, Robbiano A, Giachino D F, Sebastiano R, Dondi E, Fenoglio R, Stratta P, Caruso M R, Petrarulo M, Marangella M, De Marchi M

Abstract excerpt

We report the clinical and genetic study of a primary hyperoxaluria type I (PH1) family with two sisters homozygous for p.Gly170Arg who are still asymptomatic at age 29 and 35, and two brothers, also homozygous for the same mutation, who are affected since age 27 and 30. The clear sex difference...

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PMID: 18985333
DOI: 10.1007/s00240-008-0162-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18985333-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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