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Article

Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.

Italian journal of pediatrics - 17 Sept 2013

De Filippo Gianpaolo, Rendina Domenico, Rocco Vincenzo, Esposito Teresa, Gianfrancesco Fernando, Strazzullo Pasquale

Abstract excerpt

Imerslund-Gräsbeck syndrome is a rare autosomal recessive disorder, characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin and usually results in megaloblastic anemia appearing in childhood. It is responsive to parenteral vitamin B12 therapy.The estimated prevalence (calculated based on Scandinavian data) is less than 6:1,000,000. However, many cases may be misdiagnosed.When there...

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Source

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Identifiers

PMID: 24044590
DOI: 10.1186/1824-7288-39-58
PMCID: PMC3848621

Genes

AMN

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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Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.PMID 24044590Read ↗

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