Should transcobalamin deficiency be treated aggressively?

Journal of Inherited Metabolic Disease

Volumn 33, Issue 3, 2010, Pages 223-229

  Schiff, Manuel ^a   Ogier De Baulny, Hélène ^a   Bard, Ghislaine ^b   Barlogis, Vincent ^c   Hamel, Christian ^d   Moat, Stuart J ^e   Odent, Sylvie ^f   Shortland, Graham ^e   Touati, Guy ^g   Giraudier, Stéphane ^b,h  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b HENRI MONDOR HOSPITAL   (France)

^c TIMONE HOSPITAL   (France)

^d MONTPELLIER UNIVERSITY HOSPITAL   (France)

^e UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^f RENNES UNIVERSITY HOSPITAL   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h UNIVERSITÉ PARIS EST CRÉTEIL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; CBL PROTEIN; CYANOCOBALAMIN; FOLIC ACID; HYDROXOCOBALAMIN; TRANSCOBALAMIN II; HOMOCYSTEINE; METHIONINE; METHYLMALONIC ACID; PRIMER DNA; TRANSCOBALAMIN;

ACUTE GASTROENTERITIS; ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ANEMIA; ARTICLE; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; DIAGNOSTIC ERROR; DIARRHEA; DIET SUPPLEMENTATION; ERYTHROCYTE TRANSFUSION; EXON; FAILURE TO THRIVE; FEMALE; GENE MUTATION; HUMAN; INFANT; NEWBORN; PALLOR; PROTEIN DEFICIENCY; PROTEIN DOMAIN; STOMATITIS; THROMBOCYTE TRANSFUSION; TRANSCOBALAMIN DEFICIENCY; TREATMENT OUTCOME; VOMITING; ANEMIA, MEGALOBLASTIC; CASE REPORT; CHEMISTRY; DEFICIENCY; GENETICS; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROTEIN TERTIARY STRUCTURE; TRANSPORT AT THE CELLULAR LEVEL;

ANEMIA, MEGALOBLASTIC; BIOLOGICAL TRANSPORT; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; HOMOCYSTEINE; HUMANS; INFANT; INFANT, NEWBORN; METHIONINE; METHYLMALONIC ACID; MUTATION; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE, TERTIARY; TRANSCOBALAMINS;

EID: 77953229338     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9074-x     Document Type: Article

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