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pro vyhledávání: '"SLC19A2"'
Akademický článek
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Autor:
Omkar Patil, Karnam Guruswamy Ravikumar, Sundaramoorthy Gopi, Thulasi Raman, Venkatesan Radha, Viswanathan Mohan
Publikováno v:
Journal of Diabetology, Vol 11, Iss 1, Pp 45-48 (2020)
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder characterized by a cardinal triad consisting of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. TRMA is caused by mutations in the ge
Externí odkaz:
https://doaj.org/article/202cf23e023e4baa94b7f8bde49a4b13
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-6 (2019)
Abstract Background Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. To date, only 100 cases of
Externí odkaz:
https://doaj.org/article/b19e716a0e1241fa970ee8d10096061b
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in SLC19A2. Some cases show familial inheritance.Case report: A female patient (from a gravida 1, para 1 mother) of
Externí odkaz:
https://doaj.org/article/59850e3120964d1ea67f0dcd3ffcd3ab
Autor:
Xiaoying Xian, Lin Liao, Wei Shu, Hongtao Li, Yuanyuan Qin, Jie Yan, Jianming Luo, Fa-Quan Lin
Publikováno v:
Cellular Physiology and Biochemistry, Vol 47, Iss 5, Pp 1989-1997 (2018)
Background/Aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss.
Externí odkaz:
https://doaj.org/article/a2f083293a3f4f0480f87755ae374054
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background The Solute Carrier Family 19 Member 2 (SLC19A2, OMIM *603941) encodes the thiamine transporter 1 (THTR‐1) that brings thiamine (Vitamin B1) into cells. THTR‐1 is the only thiamine transporter expressed in bone marrow, cochlear
Externí odkaz:
https://doaj.org/article/8c97860f0599439c863382bba076dbbf
Publikováno v:
American Journal of Medical Genetics Part A. 188:948-952
Thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder, inherited by the defective SLC19A2 gene that encodes a high-affinity thiamine transporter (THTR-1). TRMA is characterized by the occurrence of classical tria
Autor:
Karnam Guruswamy Ravikumar, Viswanathan Mohan, Omkar Patil, Sundaramoorthy Gopi, Venkatesan Radha, Thulasi Raman
Publikováno v:
Journal of Diabetology, Vol 11, Iss 1, Pp 45-48 (2020)
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder characterized by a cardinal triad consisting of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. TRMA is caused by mutations in the ge
Publikováno v:
Clinica Chimica Acta. 516:157-168
Background and aims Thiamine-responsive megaloblastic anemia (TRMA), caused by SLC19A2 loss-of-function variants, is characterized by the triad of megaloblastic anemia, progressive sensorineural deafness, and non-type 1 diabetes mellitus. Here, we pr