Transcobalamin II deficiency with methylmalonic aciduria in three sisters

Journal of Inherited Metabolic Disease

Volumn 22, Issue 7, 1999, Pages 765-772

  Bibi, H ^a   Gelman Kohan, Z ^a   Baumgartner, E R ^b   Rosenblatt, D S ^c  

^a BARZILAI MEDICAL CENTER   (Israel)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c ROYAL VICTORIA HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; TRANSCOBALAMIN II;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL TRANSPORT; CONTROLLED STUDY; ENDOCYTOSIS; FEMALE; FIBROBLAST; HUMAN; INFANT; MALE; MEGALOBLASTIC ANEMIA; METHYLMALONIC ACIDURIA; NORMAL HUMAN; PRESCHOOL CHILD; PROTEIN DEFICIENCY; RADIOIMMUNOASSAY; VITAMIN SUPPLEMENTATION;

CELLS, CULTURED; FEMALE; FIBROBLASTS; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; KETOSIS; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; PROPIONATES; TRANSCOBALAMINS; TREATMENT OUTCOME; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 0032820589     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005507204491     Document Type: Article

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