Results 11 to 20 of about 563,023 (137)

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, Alper Gezdirici, Melek Yıldız, Gizem Ersoy, Gönül Aydoğan, Zafer Şalcıoğlu, Tuba Nur Tahtakesen, Hasan Önal, Banu Küçükemre-Aydın   +8 more
doaj   +6 more sources

Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia [PDF]

Gene, 2013
Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene. We studied the genetic cause and clinical features of this condition in patients from the Persian population.
Setoodeh, Aria, Haghighi, Amirreza, Saleh-Gohari, Nasrollah, Ellard, Sian, Haghighi, Alireza   +4 more
core   +10 more sources

Recurrent stroke in a child with TRMA syndrome and SLC19A2 gene mutation [PDF]

Iranian Journal of Child Neurology, 2018
Here we report a 5-month-old boy with thiamine Responsive Megaloblastic Anemia syndrome (TRMA syndrome) with several attacks of stroke. In addition to the cardinal clinical manifestations of the syndrome (thiamine-responsive megaloblastic anemia, diabetes mellitus, and sensor neural hearing loss), the patient showed the ischemic attack of stroke ...
Karimzadeh, Parvaneh, Moosavian, Toktam, Moosavian, Hamidreza, kiumarsi, Azadeh   +3 more
openaire   +2 more sources

A Novel Mutation in the SLC19A2 Gene in a Turkish Female with Thiamine-responsive Megaloblastic Anemia Syndrome [PDF]

Journal of Tropical Pediatrics, 2008
Reported here is a 2-year-old girl who was diagnosed to have thiamine-responsive megaloblastic anemia during evaluations for her bilateral neurosensorial deafness. Besides reporting a new mutation on the gene SLC19A2 for the first time in the literature, we highlight the recognition of this syndrome--when megaloblastic anemia and diabetes mellitus ...
Kocak, Uelker, Yesilkaya, Ediz, BİDECİ, AYSUN, Temizkan, Meltem, Kaya, Zuehre, Cinaz, Peyami, Bozkaya, Davut, Koc, Altug, Camurdan, Orhun   +8 more
openaire   +5 more sources

An Endemic Region of Thiamine-Responsive Megaloblastic Anemia Caused by an <i>SLC19A2</i> c.1223+1G>A Founder Mutation. [PDF]

Int J Mol Sci
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by biallelic loss of function variants in the SLC19A2 gene. It typically presents with a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. In this work, we analyzed ten children with suspected TRMA: nine exhibited the full triad and
Gurzhikhanova M, Fomenko S, Chekanov N, Musharova O, Salimova T, Goronkova O, Abasov R, Raykina E, Zinchenko R, Sharova M, Khisamieva F, Imyanitov E, Sokolenko A, Klimuk E, Maschan A, Severinov K, Maschan M.   +16 more
europepmc   +3 more sources

Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report

Archivos Argentinos de Pediatria, 2017
Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene.We report a girl which presented with ...
Karapinar, Tuba H., Katipoglu, Nagehan, Oymak, Yesim, Ay, Yilmaz, Vergin, Canan, Hazan, Filiz, Tunc, Selma, Yildiz, Melek, Koker, Sultan Aydin, Ozkan, Behzat, DEMİR, KORCAN, Korkmaz, Huseyin A., Nalbantoglu, Ozlem   +12 more
openaire   +4 more sources

Novel Homozygous Variant in the SLC19A2 Gene Causing Thiamine Responsive Megaloblastic Anemia Syndrome: A Disease to Be Considered in Diabetes Clinics

Endocrinology Research and Practice
Thiamine-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, Hanife Saat, Sema Hepsen, Özant Helvaci, Erman Cakal   +4 more
doaj   +4 more sources

Thiamine responsive megaloblastic anemia: a novelSLC19A2compound heterozygous mutation in two siblings

Pediatric Diabetes, 2013
Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disease caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by anemia, deafness, and diabetes.
Enza Mozzillo, Daniela Melis, Mariateresa Falco, Valentina Fattorusso, Roberta Taurisano, Sarah E Flanagan, Sian Ellard, Adriana Franzese   +7 more
openaire   +2 more sources

Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis [PDF]

BMC Pediatrics, 2019
Background Phenotypic difference is general in Mendelian disease. Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded.
Yan Zhang, Yi Zhang, Victor Wei Zhang, Chunyi Zhang, Hongke Ding, Aihua Yin   +5 more
doaj   +3 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, Safa Bariş, Mine Ozdil, Gözde Yeşil, Gürkan Altun, Isa Ozyilmaz, Ahmet Aydin, Tiraje Celkan   +7 more
doaj   +3 more sources