Update on transcobalamin deficiency: Clinical presentation, treatment and outcome

Journal of Inherited Metabolic Disease

Volumn 37, Issue 3, 2014, Pages 461-473

  Trakadis, Y J ^a,u   Alfares, A ^a   Bodamer, O A ^b   Buyukavci, M ^c   Christodoulou, J ^d   Connor, P ^e   Glamuzina, E ^f   Gonzalez Fernandez, F ^g   Bibi, H ^h,i   Echenne, B ^j   Manoli, I ^k   Mitchell, J ^a   Nordwall, M ^l   Prasad, C ^m   Scaglia, F ⁿ   Schiff, M ^o   Schrewe, B ^a   Touati, G ^p   Tchan, M C ^q,r   Varet, B ^s   Venditti, C P ^k   Zafeiriou, D ^t   Rupar, C A ^m   Rosenblatt, D S ^a   Watkins, D ^a   Braverman, N ^a   more..

^a MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b UNIVERSITY OF MIAMI   (United States)

^c ATATURK UNIVERSITY   (Turkey)

^d UNIVERSITY OF SYDNEY   (Australia)

^e CHILDREN S HOSPITAL FOR WALES   (United Kingdom)

^f STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^g HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^h BARZILAI MEDICAL CENTER   (Israel)

ⁱ BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^j GUI DE CHAULIAC HOSPITAL   (France)

^k NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^l VRINNEVI HOSPITAL   (Sweden)

^m UNIVERSITY OF WESTERN ONTARIO   (Canada)

ⁿ BAYLOR COLLEGE OF MEDICINE   (United States)

^o HÔPITAL ROBERT DEBRÉ   (France)

^p HÔPITAL NECKER ENFANTS MALADES   (France)

^q WESTMEAD HOSPITAL   (Australia)

^r UNIVERSITY OF SYDNEY   (Australia)

^s UNIVERSITÉ PARIS DESCARTES   (France)

^t ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^u MONTREAL CHILDREN S HOSPITAL   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; TRANSCOBALAMIN; HYDROXOCOBALAMIN;

ANEMIA; ARTICLE; B LYMPHOCYTE; BONE MARROW SUPPRESSION; CLINICAL ARTICLE; CLINICAL FEATURE; DIARRHEA; DISEASE COURSE; DISEASE SEVERITY; EXON SKIPPING; FAILURE TO THRIVE; FEMALE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GLOSSITIS; HETEROZYGOTE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; LONG TERM CARE; MALE; MISSENSE MUTATION; MYOCLONUS; NEWBORN; PANCYTOPENIA; PARTIAL BLINDNESS; PETECHIA; PURPURA; RETINA MACULOPATHY; RETINOPATHY; SKIN MANIFESTATION; T LYMPHOCYTE; TRANSCOBALAMIN DEFICIENCY; TREATMENT OUTCOME; TREMOR; VITAMIN DEFICIENCY; VITAMIN SUPPLEMENTATION; VOMITING; ADOLESCENT; ADULT; CHILD; DEFICIENCY; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; HYDROXOCOBALAMIN; INFANT; INFANT, NEWBORN; MALE; MUTATION; TRANSCOBALAMINS; TREATMENT OUTCOME; VITAMIN B 12;

EID: 84904133707     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9664-5     Document Type: Article

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