Associated Papers
Benign proximal tubular albuminuria due to AMN mutation: A challenging presentation of Imerslund-Gräsbeck syndrome.
Pul S et al.
Pediatric Nephrology (berlin, Germany), 2025
Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy.
Di Sario F et al.
Italian Journal of Pediatrics, 2024
Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.
Kingma SDK et al.
Orphanet Journal of Rare Diseases, 2023
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.
Chen RY et al.
Bmc Medical Genetics, 2020
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Arab gene geography: From population diversities to personalized medical genomics.
Tadmouri GO et al.
Global Cardiology Science & Practice, 2014
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.
Storm T et al.
Bmc Medical Genetics, 2013
Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN.
De Filippo G et al.
Italian Journal of Pediatrics, 2013
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?
Boina Abdallah A et al.
Molecular Genetics and Metabolism, 2012
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM et al.
Orphanet Journal of Rare Diseases, 2012
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities.
Beech CM et al.
Orphanet Journal of Rare Diseases, 2011
Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.
Namour F et al.
Haematologica, 2011
Molecular study of proteinuria in patients treated with B₁₂ supplements: do not forget megaloblastic anemia type 1.
Levin-Iaina N et al.
Nephron. Clinical Practice, 2011
Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.
Bouchlaka C et al.
Journal of Human Genetics, 2007
Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function.
Broides A et al.
Journal of Pediatric Hematology/oncology, 2006
Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
Tanner SM et al.
Human Mutation, 2004
Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.
Tanner SM et al.
Nature Genetics, 2003