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Article

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.

Journal of nephrology - 1 Apr 2017

Pelle Alessandra, Cuccurullo Alessandra, Mancini Cecilia, Sebastiano Regina, Stallone Giovanni, Negrisolo Susanna, Benetti Elisa, Peruzzi Licia, Petrarulo Michele, De Marchi Mario, Marangella Martino, Amoroso Antonio, Giachino Daniela, Mandrile Giorgia

Abstract excerpt

BACKGROUND: Primary hyperoxaluria (PH) is a rare autosomal recessive disease commonly arising in childhood and presenting with nephrolithiasis, nephrocalcinosis and/or chronic renal failure. Three genes are currently known as responsible: alanine-glyoxylate aminotransferase (AGXT, PH type 1), glyoxylate reductase/hydroxypyruvate reductase (GRHPR, PH type 2), and 4-hydroxy-2-oxoglutarate aldolase (HOGA1, PH type...

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Identifiers

PMID: 26946417
DOI: 10.1007/s40620-016-0287-4

Genes

AGXT
HOGA1
GRHPR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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