Results 41 to 50 of about 458 (127)

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   +3 more sources

Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16‐Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan

Pediatric Diabetes, Volume 2024, Issue 1, 2024.
Neonatal diabetes (ND) is a rare subtype of diabetes occurring in the first 6 months of life. High incidence has been reported among populations with high rates of consanguineous marriage. However, there is paucity of reported data from sub‐Saharan African countries.
Samar S. Hassan, Salwa A. Musa, Elisa De Franco, Russel Donis Frew, Omer O. Babiker, Ghassan F. Mohamadsalih, Areej A. Ibrahim, Samar Abu Samra, Mohamed A. Abdullah, Reem Al Khalifah   +9 more
wiley   +1 more source

A Case of Resistant Megaloblastic Anemia Responding to Thiamine

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2006
Thiamine responsive megaloblastic anemia (TRMA), also known as Roger syndrome is an autosomal recessive disorder resulting from the deficiency of thiamine (Vitamin B1) transporter protein.
A Bahrami- Ahmadi, F Binesh, MR Mortazavizadeh   +2 more
doaj  

Thiamine responsive megaloblastic anemia (Rogers syndrome) in a three-year-old child

Bulletin of Russian State Medical University
Thiamine responsive megaloblastic anemia (TRMA), or Rogers syndrome, is a rare autosomal recessive disease characterized by the development of megaloblastic anemia, diabetes mellitus, and progressive sensorineural hearing loss. In some cases, the syndrome causes ophthalmological disorders (retinitis pigmentosa, optic nerve atrophy, maculopathy ...
TV Konyukhova, EV Trukhina
openaire   +1 more source

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

ePresentation

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source

Thiamine-responsive megaloblastic anemia syndrome [PDF]

, 2020
openaire   +1 more source

A Case of Early-Onset Thiamine-Responsive Megaloblastic Anemia Syndrome

Turkiye Klinikleri Journal of Endocrinology, 2015
Melahat Melek OĞUZ, Zehra AYCAN, Melikşah KESKİN, Senem ESEN ŞAHİN, Pelin ZORLU   +4 more
openaire   +1 more source

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
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   +1 more source