Article

Imerslund-Gräsbeck Syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report

2023-11-14

Abstract excerpt

<title>Abstract</title> <p>Background Imerslund-Gräsbeck syndrome (IGS) is an autosomal recessive disorder characterized by selective vitamin B12 malabsorption, resulting in vitamin B12 deficiency and impaired reabsorption of proximal tubular proteins.This case highlights a previously unidentified compound heterozygous variant in the Amnionless（AMN） gene that causes IGS syndrome and underscores the importance of...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1ca8956b-9cd9-5fdc-a0a7-4c91defa132c
DOI: 10.21203/rs.3.rs-3484580/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Imerslund-Gräsbeck Syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case reportDOI 10.21203/rs.3.rs-3484580/v1Read

Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report.Semantic proximity Read

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

Two cases of Imerslund-Grasbeck syndrome with AMN gene mutation: A case reportSemantic proximity Read

Benign Proximal Tubular Albuminuria due to AMN mutation: A Challenging Presentation of Imerslund-Gräsbeck SyndromeSemantic proximity Read

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

Benign proximal tubular albuminuria due to AMN mutation: A challenging presentation of Imerslund-Gräsbeck syndrome.Semantic proximity Read

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndromeSemantic proximity Read

Imerslund-Gräsbeck syndrome: a comprehensive review of reported casesSemantic proximity Read

Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.Semantic proximity Read

Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child.Semantic proximity Read

Imerslund-Gräsbeck syndrome: new mutation in amnionless.Semantic proximity Read

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Semantic proximity Read