Homozygot mutation i intrinsic factor-genet hos et barn med svær vitamin B12-mangel

Ugeskrift for Laeger

Volumn 173, Issue 34, 2011, Pages 2047-

  Leunbach, Tina Lund ^a   Johansen, Preben ^a   Tanner, Stephan M ^b   Gräsbeck, Ralph ^c   Helgestad, Jon ^a  

^a AALBORG UNIVERSITY HOSPITAL   (Denmark)

^b OHIO STATE UNIVERSITY   (United States)

^c BIOMEDICUM HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXOCOBALAMIN; INTRINSIC FACTOR; VITAMIN B COMPLEX;

ARTICLE; CASE REPORT; CYANOCOBALAMIN DEFICIENCY; FEMALE; GENETICS; GROWTH; HOMOZYGOTE; HUMAN; INFANT; MALE; MUTATION; PRESCHOOL CHILD;

CHILD, PRESCHOOL; FEMALE; GROWTH; HOMOZYGOTE; HUMANS; HYDROXOCOBALAMIN; INFANT; INTRINSIC FACTOR; MALE; MUTATION; VITAMIN B 12 DEFICIENCY; VITAMIN B COMPLEX;

EID: 80053056525     PISSN: 00415782     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (3)

1. 12 malabsorption with proteinuria). Orphanet J Rare Dis 2006;1:17.
2. Quadros EV: Advances in the understanding of cobalamin assimilation and metabolism. Br J Haematol 2010;148:195-204.
3. Tanner SM, Li Z, Perko JD et al. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. PNAS 2005;102:4130-33.