Thiamine-responsive megaloblastic anemia: Identification of novel compound heterozygotes and mutation update

Journal of Pediatrics

Volumn 155, Issue 6, 2009, Pages

  Bergmann, Anke K ^a   Sahai, Inderneel ^c   Falcone, Jill F ^a   Fleming, Judy ^a,b   Bagg, Adam ^e   Borgna Pignati, Caterina ^g   Casey, Robin ⁱ   Fabris, Luca ^h   Hexner, Elizabeth ^e   Mathews, Lulu ^j   Ribeiro, Maria Leticia ^k   Wierenga, Klaas J ^f   Neufeld, Ellis J ^a,d  

^a Division of Hematology and Oncology   (United States)

^b Translational Research Program   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d DANA FARBER CANCER INSTITUTE   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF FERRARA   (Italy)

^h UNIVERSITY OF PADOVA   (Italy)

ⁱ UNIVERSITY OF CALGARY   (Canada)

^j Medical College Calicut   (India)

^k CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; SLC19A2 PROTEIN, HUMAN; THIAMINE; VITAMIN B COMPLEX;

ADULT; ARTICLE; CHILD; COHORT ANALYSIS; DIABETES MELLITUS; FEMALE; GENETICS; HEARING IMPAIRMENT; HETEROZYGOTE; HUMAN; INFANT; MALE; MEGALOBLASTIC ANEMIA; MUTATION; PHENOTYPE; PRESCHOOL CHILD;

ADULT; ANEMIA, MEGALOBLASTIC; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DEAFNESS; DIABETES MELLITUS; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PHENOTYPE; THIAMINE; VITAMIN B COMPLEX;

EID: 73949095906     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2009.06.017     Document Type: Article

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