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Article

Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study.

Journal of internal medicine - 1 Jul 2021

O'Brien K J, Parisi X, Shelman N R, Merideth M A, Introne W J, Heller T, Gahl W A, Malicdan M C V, Gochuico B R

Abstract excerpt

BACKGROUND: Knowledge about inflammatory bowel disease (IBD) in patients with Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles, could provide insights into IBD in general. OBJECTIVE: To expand the understanding of IBD in patients with HPS. METHODS: Retrospective review of records from patients with HPS evaluated at the...

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Identifiers

PMID: 33423334
DOI: 10.1111/joim.13224

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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