Article

“Cytopenias and proteinuria as key diagnostic features of Imerslund-Gräsbeck Syndrome: a case series of four Argentine patients”

2025-03-25

Abstract excerpt

Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder caused by pathogenic variants in CUBN or AMN genes, leading to selective vitamin B12 malabsorption. Symptoms include failure to thrive, cytopenia, and proteinuria. This study aims to analyze clinical, biochemical, and molecular genetic profiles of 4 patients diagnosed with IGS at a single center in Argentina. Macrocytic anemia and neutropen...

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Literature Corpus work: b56f98af-96d8-5f75-a085-459031d5a31b
DOI: 10.22541/au.174291335.58828505/v1

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