合計: 3 |
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PMID (PMCID) | ||
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29505016 (5779785) |
FEMALE | |
Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family. | ||
Shin S, Jang W, Kim M, Kim Y, Park SY, Park J, Yang YJ. Medicine (Baltimore). 2018;97(3):e9677. |
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The proband underwent a splenectomy due to transfusion-refractory anemia and splenomegaly. | ||
18423148 |
MIXED_SAMPLE | Child |
[Living-related liver transplantation for cavernous transformation of portal vein: a clinical study of 3 cases]. | ||
Zhang MM, Jin XQ, Yan LN, Kang Q, Guo CB. Zhonghua Gan Zang Bing Za Zhi. 2008;16(4):270-3. |
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Three children (two boys and one girl) were presented to our hospital with recurring esophageal variceal bleeding, decompensating ascites, splenomegaly and refractory anemia. | ||
11764104 |
FEMALE | Infant, Newborn |
Lethal hydrops fetalis due to congenital dyserythropoietic anemia in a newborn: association of a new skeletal abnormality. | ||
Tekinalp G, Sarici SU, Erdinc AS, Gogus S, Balci S, Gurgey A. Pediatr Hematol Oncol. 2001;18(8):537-42. |
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Congenital dyserythropoietic anemias (CDAs) are a group of hereditary refractory anemias characterized by ineffective erythropoiesis, typical morphological abnormalities of erythroblasts, a low or no reticulocyte response, hyperbilirubinemia, and splenomegaly. |