Zobrazeno 1 - 10
of 1 774
pro vyhledávání: '"sideroblastic anemia"'
Publikováno v:
Clinical Immunology Communications, Vol 5, Iss , Pp 26-29 (2024)
Syndrome of Congenital Sideroblastic Anemia, B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD) is caused by mutations in the tRNA nucleotidyltransferase 1 (TRNT1) gene. We present the case of a 13-month-old boy with development
Externí odkaz:
https://doaj.org/article/8ad89c70a12c43c8b1470024ea35c770
Autor:
Jianling Cai, Tianming Liu, Yuxuan Huang, Hongxing Chen, Meidie Yu, Dongqing Zhang, Zhanqin Huang
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundCongenital sideroblastic anemia (CSA) constitutes a group of inherited erythropoietic disorders. Some affect mainly or exclusively erythroid cells; other syndromic forms occur within multisystem disorders with extensive nonhematopoietic man
Externí odkaz:
https://doaj.org/article/957b1474c1cf41c3a1a23e9ee7e915a8
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Journal of Personalized Medicine, Vol 14, Iss 6, p 636 (2024)
The ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance. Some ABC transporters are involved in functions such as the transport of chloride ions, bilirubi
Externí odkaz:
https://doaj.org/article/235c5c73d10d490096f244e53a29b52d
Autor:
Kiran Dhonju, Ashmita Gautam, Abhinav Dahal, Niraj Kumar Sharma, Divas Adhikari, Lina Devkota, Prabhat Adhikari, Sampurna Tuladhar, Bishnu Deep Pathak, Sabin Banmala
Publikováno v:
Clinical Case Reports, Vol 11, Iss 12, Pp n/a-n/a (2023)
Key Clinical Message Dolutegravir, the most recent antiretroviral drug with high efficacy, good tolerability, infrequent drug–drug interactions, and a favorable safety profile has not been reported in current literature as a cause of acquired sider
Externí odkaz:
https://doaj.org/article/34e9fc93f93e41d4bda484d922e92aa5
Autor:
Muhammad Matloob Alam, Abdulrhman Alathaibi, Ruwayd Adel Attar, Muhammad Kashif, Hamdan Saeed Al-Ghamdi, Sultan Abdulaziz Alharthi, Abdulmohsen Bokhary, Muteb Althomali
Publikováno v:
Clinical Pediatric Hematology-Oncology, Vol 29, Iss 2, Pp 65-69 (2022)
We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of severe anemia, reticulocytopenia and bone marrow findings. Since early infancy due to se
Externí odkaz:
https://doaj.org/article/50c69ad80a4b4141b55fe04ae65cf7b6
Autor:
Shehab Mohamed, Firyal Ibrahim, Mohamad Najib Alasafar, Awni Alshurafa, Susanna Akiki, Dina Soliman, Samah Kohla, Aliaa Amer, Hana Qasim, Honar Cherif
Publikováno v:
Clinical Case Reports, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Sideroblastic anemia is a heterogeneous group of disorders typified by the presence of ring sideroblasts in the bone marrow and has congenital and acquired types. Sideroblastic anemia is a rare event in pregnancy. We report a case of a 32‐
Externí odkaz:
https://doaj.org/article/d76762a52f3e4acbad9d2a4bbb11f201
Autor:
Cui-Jie Wei, Yi-Dan Liu, Yan-Ling Yang, Yuan Wu, Jie-Yu Liu, Xing-Zhi Chang, Ying Hua, Yu-He Liu, Hui Xiong
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with TRNT1 is autosomal recessiv
Externí odkaz:
https://doaj.org/article/0b05b60633cd47a9b8afdb706ab9e62a
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2023)
BackgroundIARS2 (EC6.1.5) is a mitochondrial isoleucine-tRNA synthetase. Despite the fact that only fewer than 30 patients have been reported in the literature, mitochondrial disorders caused by pathogenic variants in the IARS2 gene (OMIM: 616007) ha
Externí odkaz:
https://doaj.org/article/a67aa79500cc4d20ab8ef927f295a9a1
Autor:
Dina Sameh Soliman, Samah Kohla, Shehab Fareed, Susanna Akiki, Aliaa Amer, Ibrahim Ganwo, Prem Chandra, Halima El-Omri, Feryal Ibrahim
Publikováno v:
Mediterranean Journal of Hematology and Infectious Diseases, Vol 14, Iss 1 (2022)
Sideroblastic anemia (SA) is a rare heterogenous group of inherited and acquired bone marrow disorders. We retrospectively studied the clinicopathologic characteristics, cytogenetic findings, and disease outcome of patients with acquired sideroblasti
Externí odkaz:
https://doaj.org/article/9db95e8f403a434d8aeb838ea0e8ef01