Imerslund-Gräsbeck syndrome in a 15-year-old German girl caused by compound heterozygous mutations in CUBN

European Journal of Pediatrics

Volumn 167, Issue 6, 2008, Pages 671-675

  Hauck, Fabian H ^a   Tanner, Stephan M ^b   Henker, Jobst ^a   Laass, Martin W ^a  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

Cobalamin malabsorption; Funicular myelosis; Intrinsic factor deficiency; Megaloblastic anaemia; Proteinuria

Indexed keywords

CUBILIN; CYANOCOBALAMIN; CYANOCOBALAMIN CO 57; HYDROXOCOBALAMIN; INTRINSIC FACTOR;

ADOLESCENT; AMNIONLESS GENE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CYANOCOBALAMIN DEFICIENCY; DRUG MEGADOSE; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; GENE LOCATION; HEMATOLOGICAL PARAMETERS; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMERSLUND GRASBECK SYNDROME; LABORATORY TEST; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; SCHILLING TEST; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT OUTCOME;

ADOLESCENT; ANEMIA, MEGALOBLASTIC; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE DELETION; GERMANY; HUMANS; INTESTINAL ABSORPTION; KIDNEY; MALABSORPTION SYNDROMES; MUTATION, MISSENSE; PROTEINURIA; RECEPTORS, CELL SURFACE; URINARY TRACT; VITAMIN B 12 DEFICIENCY;

EID: 41849114499     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-007-0571-3     Document Type: Article

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