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Article

An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.

Journal of child neurology - 1 May 2013

Pavlou Evangelos, Augoustides-Savvopoulou Persephone, Gregersen Niels, Haas Dorothea, Gkampeta Anastasia, Athanassiadou-Piperopoulou Fani

Abstract excerpt

A 4-month-old male infant was brought to the emergency department because of striking petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and thrombocytosis and the infant was admitted for further investigations. Laboratory findings showed no evidence of infection, and a bone marrow aspirate demonstrated a normal number of immature cells of all lineages. Coagulation and routine...

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Source

Identifiers

PMID: 22805253
DOI: 10.1177/0883073812449070

Genes

ETHE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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