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Article

Biochemical abnormalities in Pearson syndrome.

American journal of medical genetics. Part A - 1 Mar 2015

Crippa Beatrice Letizia, Leon Eyby, Calhoun Amy, Lowichik Amy, Pasquali Marzia, Longo Nicola

Abstract excerpt

Pearson marrow-pancreas syndrome is a multisystem mitochondrial disorder characterized by bone marrow failure and pancreatic insufficiency. Children who survive the severe bone marrow dysfunction in childhood develop Kearns-Sayre syndrome later in life. Here we report on four new cases with this condition and define their biochemical abnormalities. Three out of four patients presented with failure to thrive, with...

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Source

Identifiers

PMID: 25691415
DOI: 10.1002/ajmg.a.36939

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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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