A patient with cubilin deficiency

N Engl J Med. 2011 Jan 6;364(1):89-91. doi: 10.1056/NEJMc1009804.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alpha-Globulins / urine
  • Anemia, Megaloblastic / genetics
  • Apolipoprotein A-I / analysis
  • Humans
  • Immunohistochemistry
  • Kidney / anatomy & histology
  • Kidney / chemistry
  • Kidney / pathology*
  • Malabsorption Syndromes / genetics
  • Malabsorption Syndromes / pathology
  • Male
  • Membrane Proteins
  • Point Mutation
  • Proteins / analysis
  • Proteinuria / genetics
  • Proteinuria / pathology
  • Receptors, Cell Surface / analysis
  • Receptors, Cell Surface / deficiency*
  • Receptors, Cell Surface / genetics
  • Vitamin B 12 Deficiency / genetics
  • Vitamin B 12 Deficiency / pathology
  • Young Adult

Substances

  • AMN protein, human
  • Alpha-Globulins
  • Apolipoprotein A-I
  • Membrane Proteins
  • Proteins
  • Receptors, Cell Surface
  • alpha-1-microglobulin
  • intrinsic factor-cobalamin receptor

Supplementary concepts

  • Imerslund-Grasbeck syndrome