Results 111 to 120 of about 511,787 (144)

Interface dermatitis in a patient with TRNT1 deficiency: A case report

JAAD Case Reports
Andrew J. Gauger, BS, Danielle Y. Del Mundo, MD, Anita N. Haggstrom, MD, Ahmed K. Alomari, MD   +3 more
doaj   +1 more source

Congenital sideroblastic anemia in a female.

Indian pediatrics, 1989
openaire   +1 more source

[Congenital Sideroblastic Anemia and Iron Overload in Older Age].

Acta medica portuguesa
Mariana, Gradim, Fátima, Ferreira
openaire   +1 more source

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Molecular Pathophysiology and Genetic Mutations in Congenital Sideroblastic Anemia

Free Radical Biology and Medicine, 2019
Sideroblastic anemia is a heterogeneous congenital and acquired disorder characterized by anemia and the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia (CSA) is a rare disease caused by mutations in genes involved in the heme biosynthesis, iron-sulfur [Fe-S] cluster biosynthesis, and mitochondrial protein synthesis ...
Hideo Harigae
exaly   +3 more sources

A Study of a Female With Congenital Sideroblastic Anemia

American Journal of Hematology, 1982
AbstractA female infant with congenital refractory sideroblastic anemia is described. A market reduction of δ‐aminolevulinic acid (ALA) synthetase activity of erythroblasts was noticed with and without treatment of pyridoxal phosphate. Mitochondrial neutral protease activity of erythroblasts, which inactivates specifically the apo form of ALA ...
Kenshi Furusho, Yosuke Aoki
exaly   +3 more sources

Luspatercept for the Treatment of Congenital Sideroblastic Anemia: Two Case Reports

Current Research in Translational Medicine
Congenital sideroblastic anemia (CSA) is a group of disorders caused by different genetic mutations that result in low iron utilization and ineffective erythropoiesis. Current treatments are limited, and some patients do not respond to vitamin B6 therapy.
Yuanyuan Shao, Shaoxue Ding
exaly   +3 more sources

Glycine Supplementation – A Novel Therapeutic Strategy for Congenital Sideroblastic Anemia.

Blood, 2012
Abstract Abstract 2087 Congenital sideroblastic anemias (CSA) are inherited diseases, characterized by ineffective haematopoiesis, typically severe microcytic anemia and bone marrow sideroblasts representing excess iron deposition in the mitochondria of the erythroid precursors. More than 40% of CSA cases are attributed to
Conrad V Fernandez, Jason N Berman, Christopher R McMaster   +2 more
exaly   +2 more sources

Non Syndromic Childhood Onset Congenital Sideroblastic Anemia: A Report of 13 Patients Identified With an ALAS2 or SLC25A38 Mutation

Blood Cells, Molecules, and Diseases, 2017
The most frequent germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes. Iron overload is a key issue and optimal chelation therapy should be used to limit its adverse effects on the ...
Fabienne Toutain, Karim Maloum, Cyrielle Fouquet   +2 more
exaly   +2 more sources

Luspatercept Enhances Hemoglobin Levels in a Chinese Boy With Congenital Sideroblastic Anemia: A Case Report [PDF]

World Journal of Clinical Cases
BACKGROUND: Congenital sideroblastic anemia (CSA) is a rare and heterogeneous group of genetic disorders. Conventional treatment include pyridoxine (vitamin B6) and allogeneic hematopoietic stem cell transplantation (allo-HSCT), and can alleviate anemia ...
Huihui Fan, Lei Ye, Guangxin Peng
exaly   +2 more sources

Five-Aminolevulinic Acid: New Approach for Congenital Sideroblastic Anemia

Pediatrics International, 2018
Toshihiko Imamura, Hiroyuki Ishida, Akira Morimoto   +2 more
exaly   +3 more sources