Results 1 to 10 of about 563,023 (137)

TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report [PDF]

BMC Pediatrics, 2019
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.
Xin Li, Qing Cheng, Yu Ding, Qun Li, Ruen Yao, Jian Wang, Xiumin Wang   +6 more
doaj   +7 more sources

A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia [PDF]

Cellular Physiology and Biochemistry, 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 ...
Xiaoying Xian, Lin Liao, Wei Shu, Hongtao Li, Yuanyuan Qin, Jie Yan, Jianming Luo, Fa-Quan Lin   +7 more
doaj   +5 more sources

Thiamine-responsive megaloblastic anemia syndrome with novel compound heterozygous SLC19A2 mutations and thrombotic events: a case report [PDF]

Journal of Medical Case Reports
Background Thiamine-responsive megaloblastic anemia syndrome represents a rare autosomal recessive condition originating from mutations in the SLC19A2 gene.
Francisco Xavier Jiménez, Carlos Rojas, Heidi A. Fernandez, Rossana Ruiz-Urbáez, Carlos Reyes-Silva, Jhonatan Guamán, Mauricio Carrión, Fernando Naranjo-Saltos   +7 more
doaj   +4 more sources

Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family [PDF]

Molecular Genetics & Genomic Medicine, 2019
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.
Khalda Amr, Patrycja Pawlikowska, Said Aoufouchi, Filippo Rosselli, Ghada El‐Kamah   +4 more
doaj   +5 more sources

Genome-wide investigation of DNA methylation marks associated with FV Leiden mutation. [PDF]

PLoS ONE, 2014
In order to investigate whether DNA methylation marks could contribute to the incomplete penetrance of the FV Leiden mutation, a major genetic risk factor for venous thrombosis (VT), we measured genome-wide DNA methylation levels in peripheral blood ...
Dylan Aïssi, Jessica Dennis, Martin Ladouceur, Vinh Truong, Nora Zwingerman, Ares Rocanin-Arjo, Marine Germain, Tara A Paton, Pierre-Emmanuel Morange, France Gagnon, David-Alexandre Trégouët   +10 more
doaj   +2 more sources

Rogers Syndrome, an Uncommon Cause of Megaloblastic Anemia: A Case Series [PDF]

Advanced Biomedical Research
The present case series describes two male children of 5 months and 11 months old, having diabetes mellitus and megaloblastic anemia, but with no syndromic symptoms or organ involvement.
Reshma Roshan, Masarat Mehboob, Roman Latif, Javid R. Bhat, Santosh G. Rathod   +4 more
doaj   +2 more sources

Diagnosis of a Patient With Severe Sensorineural Hearing Loss as the Initial Symptom Caused by Novel Compound Heterozygous Variant in SLC19A2 Gene [PDF]

Brazilian Journal of Otorhinolaryngology
Niu Li, Youjin Li, JunYang Li
exaly   +2 more sources

Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome

Frontiers in Pediatrics, 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 3.5
Pengjiang Kang, Weihua Zhang, Jinquan Wen, Jiming Zhang, Fei Li, Wuxia Sun   +5 more
doaj   +1 more source

Thiamine-responsive megaloblastic anemia syndrome: A case report

Journal of Diabetology, 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.
Omkar Patil, Karnam Guruswamy Ravikumar, Sundaramoorthy Gopi, Thulasi Raman, Venkatesan Radha, Viswanathan Mohan   +5 more
doaj   +1 more source

Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa

Molecular Genetics and Metabolism Reports, 2020
Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gene is
Surita Meldau, Carl Fratter, Louisa Ntombenhle Bhengu, Kate Sergeant, Kashief Khan, Gillian Tracy Riordan, Peter Allan Minham Berman   +6 more
doaj   +1 more source