Thiamine Responsive Megaloblastic Anemia Syndrome
Indian Journal of Pediatrics, 2009 Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram) syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI), diabetes mellitus (DM) ,optic atrophy (OA ...
Ramaswamy Ganesh +2 more
exaly +7 more sources
Arrhythmia in thiamine responsive megaloblastic anemia syndrome [PDF]
The Turkish Journal of Pediatrics, 2018 Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness.
Mustafa Argun +6 more
doaj +6 more sources
Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update [PDF]
Journal of Pediatrics, 2009 To determine causative mutations and clinical status of 7 previously unreported kindreds with TRMA syndrome, (thiamine-responsive megaloblastic anemia, online Mendelian inheritance in man, no. 249270), a recessive disorder of thiamine transporter Slc19A2.Genomic DNA was purified from blood, and SLC19A2 mutations were characterized by sequencing ...
Ellis J Neufeld +2 more
exaly +9 more sources
Stroke as an initial manifestation of thiamine-responsive megaloblastic anemia [PDF]
Annals of Indian Academy of Neurology, 2020 Priyanka Madaan +5 more
doaj +4 more sources
THIAMINE–RESPONSIVE MEGALOBLASTIC ANEMIA, SENSORINEURAL DEAFNESS AND DIABETES MELLITUS [PDF]
Acta Medica Iranica, 2006 - The syndrome of diabetes mellitus, sensorineural deafness and megaloblastic anemia dose not result from thiamine deficiency. The previous reported patients had no sign of beriberi, had normal nutrition, and had no evidence of malabsorption.
T. Zaman +1 more
doaj +3 more sources
An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia
Indian Journal of Pathology and Microbiology, 2023 Rogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness.
Gurpreet Kaur +4 more
doaj +4 more sources
Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness [PDF]
The Turkish Journal of Pediatrics, 2009 Thiamine-responsive megaloblastic anemia syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss.
Hasan Onal +7 more
doaj +3 more sources
A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome [PDF]
The Turkish Journal of Pediatrics, 2019 Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness and diabetes mellitus.
Işık Odaman-Al +8 more
doaj +2 more sources
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 +5 more
doaj +2 more sources
Endocrinology Research and PracticeThiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare syndrome with an autosomal recessive manner that develops due to a mutation in the SLC19A2gene.
Burcak Cavnar Helvaci +4 more
doaj +4 more sources