Transcobalamin (TC) deficiency and newborn screening

Journal of Inherited Metabolic Disease

Volumn 35, Issue 4, 2012, Pages 727-

  Prasad, Chitra ^a   Cairney, A E ^a   Rosenblatt, D S ^b   Rupar, C A ^a  

^a LONDON HEALTH SCIENCES CENTRE   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3; CYANOCOBALAMIN; CYSTEINE; HEMOGLOBIN; HOMOCYSTEINE; METHYLMALONIC ACID; PROPIONIC ACID; THYMINE; TRANSCOBALAMIN;

CASE REPORT; CHILD; FEMALE; HEMATOLOGICAL PARAMETERS; HOMOZYGOSITY; HUMAN; LETTER; MALE; MUTATIONAL ANALYSIS; NEUTROPHIL COUNT; NEWBORN SCREENING; PANCYTOPENIA; TRANSCOBALAMIN DEFICIENCY; VITAMIN DEFICIENCY;

HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; TRANSCOBALAMINS; VITAMIN B 12;

EID: 84863876565     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9431-4     Document Type: Letter

References (2)

1. Prasad C, Rosenblatt DS, Corley K, Cairney AE, Rupar CA (2008) Transcobalamin (TC) deficiency-Potential cause of bone marrow failure in childhood. J Inherit Metab Dis 31(Suppl 2):S287-292
2. Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Mühl A, Fowler B, Nexo E, Bodamer OA (2009) Transcobalamin II deficiency at birth. Mol Genet Metab 98(3):285-288