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Article

Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome.

The Journal of pediatrics - 1 Aug 2002

Ip Wan F, Dupuis Annie, Ellis Lynda, Beharry Satti, Morrison Jodi, Stormon Michael O, Corey Mary, Rommens Johanna M, Durie Peter R

Abstract excerpt

OBJECTIVE: To evaluate the role of serum enzymes for defining the pancreatic phenotype in Shwachman-Diamond syndrome (SDS), an inherited multisystem condition. STUDY DESIGN: Serum pancreatic trypsinogen and isoamylase were measured in 164 patients known or presumed to have SDS. The diagnosis was confirmed in 90 patients. Among 74 unconfirmed cases, 35 ("probable SDS") had hematologic dysfunction but lacked...

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Source

Identifiers

PMID: 12183724
DOI: 10.1067/mpd.2002.125849

Genes

SDS

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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