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Primary hyperoxaluria type 1: pathophysiology and genetics

Primary hyperoxaluria type 1: pathophysiology and genetics

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9113437

Primary hyperoxaluria type 1: pathophysiology and genetics

About this item

Full title

Primary hyperoxaluria type 1: pathophysiology and genetics

Publisher

England: Oxford University Press

Journal title

Clinical kidney journal, 2022-05, Vol.15 (Supplement_1), p.i4-i8

Language

English

Formats

Publication information

Publisher

England: Oxford University Press

More information

Scope and Contents

Contents

Primary hyperoxaluria type 1 (PH1) is a rare genetic form of calcium oxalate kidney stone disease. It is caused by a deficiency in the liver-specific enzyme, alanine:glyoxylate aminotransferase (AGT), a pyridoxal-5′-phosphate (PLP)-dependent enzyme involved in the metabolism of glyoxylate. The excessive endogenous synthesis of oxalate that ensues l...

Alternative Titles

Full title

Primary hyperoxaluria type 1: pathophysiology and genetics

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9113437

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9113437

Other Identifiers

ISSN

2048-8505

E-ISSN

2048-8513

DOI

10.1093/ckj/sfab217

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