Imerslund–Gräsbeck syndrome: New mutation in <i>amnionless</i>

The functional cobalamin (vitamin B12)–intrinsic factor receptor is a novel complex of cubilin and amnionless

John C. Fyfe, Mette Madsen, Peter Højrup et al. · Blood · 2003 · 296 citations · Full text

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

Maria Aminoff, Jo Ellen Carter, Robert B. Chadwick et al. · Nature Genetics · 1999 · 266 citations

Mendelian Disorder, Genetic Disorder, Genetics +4

Selective Vitamin B₁₂ Malabsorption and Proteinuria in Young People A Syndrome

Ralph Gräsbeck, Ruben Gordin, I. KANTERO et al. · Acta Medica Scandinavica · 1960 · 231 citations

Vitamin Nutrition, Nutrition, Nutritional Requirement +9

Genetically heterogeneous selective intestinal malabsorption of vitamin B₁₂: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

Stephan M. Tanner, Zhong-Yuan Li, Ryan Bisson et al. · Human Mutation · 2004 · 87 citations

Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption

Virve Wahlstedt-Fröberg, Tom Pettersson, Maria Aminoff et al. · Pediatric Nephrology · 2003 · 79 citations

Vitamin Nutrition, Renal Function, Biochemistry +7