Maria Aminoff
University of Helsinki(FI)Folkhälsans Forskningscentrum(FI)
Publications by Year
Research Areas
Folate and B Vitamins Research, Porphyrin Metabolism and Disorders, Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Digestive system and related health
Most-Cited Works
- → A serine/threonine kinase gene defective in Peutz–Jeghers syndrome(1998)1,641 cited
- → Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D 3(2001)308 cited
- → The intrinsic factor–vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein(1999)268 cited
- → Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1(1999)267 cited
- → Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia(2003)151 cited
- → Proteinuria in cubilin-deficient patients with selective vitamin B12 malabsorption(2003)79 cited
- → Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor–vitamin B12 by cubilin(2000)59 cited
- Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.(1995)
- → A Urinary Radioisotope-Binding Assay to Diagnose Gräsbeck-Imerslund Disease(1998)14 cited