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Article

The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood.

The Journal of pediatrics - 1 Dec 2009

Toiviainen-Salo Sanna, Durie Peter R, Numminen Kirsti, Heikkilä Päivi, Marttinen Eino, Savilahti Erkki, Mäkitie Outi

Abstract excerpt

OBJECTIVES: In order to characterize the natural course of Shwachman-Diamond syndrome (SDS)-associated hepatopathy we evaluated liver biochemistry and imaging findings, and their evolution with age, in patients with SDS and verified SBDS mutations. STUDY DESIGN: Retrospective and cross-sectional liver imaging, biochemical and histologic data of 12 patients (age range 2.1 to 37 years) with SBDS mutations were...

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Source

Identifiers

PMID: 19683257
DOI: 10.1016/j.jpeds.2009.06.047

Genes

SDS
SBDS

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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