Isosorbide dinitrate in nephronophthisis treatment.

doi:10.1002/ajmg.a.38650

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Article

Isosorbide dinitrate in nephronophthisis treatment.

American journal of medical genetics. Part A - 1 Apr 2018

Strong Alanna, Muneeruddin Samina, Parrish Richard, Lui Daniel, Conley Susan B

Abstract excerpt

Nephronophthisis is a progressive disease that affects development of the renal tubules and leads to end stage renal disease. Many affected children have isolated renal disease; however, there can be additional manifestations including heart defects, liver fibrosis, brain malformations, and situs inversus. There is no way to slow or modify the disease. We describe a patient who presented at birth with cholestatic...

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PMID: 29575630
DOI: 10.1002/ajmg.a.38650

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NPHP3

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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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