Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy.
Department of Laboratory Medicine, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.|Catholic Genetic Laboratory Center, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
M
M
Kim
Department of Laboratory Medicine, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.|Catholic Genetic Laboratory Center, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
J
J
Park
Department of Laboratory Medicine, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.|Catholic Genetic Laboratory Center, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
J
J
Lee
Department of Laboratory Medicine, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.|Catholic Genetic Laboratory Center, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
W
W
Jang
Department of Laboratory Medicine, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.|Catholic Genetic Laboratory Center, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
H
H
Chae
Catholic Genetic Laboratory Center, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
H
H
Choi
Catholic Genetic Laboratory Center, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
J
J
Kim
Catholic Genetic Laboratory Center, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
A
A
Kwon
Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
J-W
JW
Lee
Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
B
B
Cho
Department of Laboratory Medicine, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.|Catholic Genetic Laboratory Center, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Y
Y
Kim
Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
N-G
NG
Chung
D000293:Adolescent; D000483:Alleles; D000743:Anemia, Hemolytic / Q000097:blood / Q000235:genetics* / Q000601:surgery*; D001663:Bilirubin / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D059472:Exome; D005192:Family Health; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D019520:Living Donors; D008297:Male; D008533:Megakaryocytes / Q000166:cytology; D009154:Mutation; D011770:Pyruvate Kinase / Q000235:genetics*; D035781:Siblings; D013156:Splenectomy; D000073359:Exome Sequencing
D011770:Pyruvate Kinase; D001663:Bilirubin