Results 91 to 100 of about 458 (127)

Cardiac Manifestations in Thiamine-Responsive Megaloblastic Anemia Syndrome

Pediatric Cardiology, 2003
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. Other features of this syndrome gradually develop.
Hanna Mandel, Avihu Gazit, A Lorber
exaly   +3 more sources

Thiamine-Responsive Megaloblastic Anemia Syndrome: Long Term Follow-Up

Journal of Pediatrics, 2009
Thiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness. We describe a 20-year follow-up of 2 previously reported patients and of 1 patient diagnosed before onset of symptoms and treated with thiamine since the first sign of disease.
Caterina Borgna-Pignatti
exaly   +3 more sources

ROGERS SYNDROME-THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME: CASE REPORT

Pakistan Journal of Pathology, 2022
Thiamine responsive megaloblastic anemia (TRMA) encompasses a complex syndrome of anemia, sensorineural hearing loss and Diabetes Mellitus. We report a 06 years old male child with pallor, bilateral sensorineural hearing loss, Diabetes Mellitus, megaloblastic anemia, retinitis pigmentosa and a normal response to water deprivation test.
Alveena Younas, Mohsin Younas, Aamir Ijaz, Zujaja Hina Haroon, Nida Basharat   +4 more
openaire   +1 more source

TRMA Syndrome (Thiamine-Responsive Megaloblastic Anemia): A Case Report and Review of the Literature

Pediatric Diabetes, 2002
Thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder with features that include megaloblastic anemia, mild thrombocytopenia and leukopenia, sensorineural deafness and diabetes mellitus. In this disease, the active thiamine uptake into cells is disturbed. Treatment with pharmacological doses of thiamine ameliorates
Mustafa Akçakuş, Tamer Güneş, Selim Kurtoğlu   +2 more
exaly   +5 more sources

Thiamine-Responsive Megaloblastic Anemia Syndrome

2017
Thiamine-responsive megaloblastic anemia (TRMA) syndrome (OMIM No. 249270) is an autosomal recessive disorder and an example of a rare form of monogenic diabetes coexisting with anemia and deafness ...
Franzese, Adriana, Fattorusso, Valentina, Mozzillo, Enza   +2 more
openaire   +2 more sources

Thiamine-Responsive Megaloblastic Anemia Syndrome With Atrial Standstill

Journal of Pediatric Hematology/Oncology, 2011
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an uncommon autosomal recessive disorder. The disease is caused by mutations in the gene, SLC19A2, encoding a high-affinity thiamine transporter, which disturbs the active thiamine uptake into cells.
Zehra, Aycan, Veysel Nijat, Baş, Semra, Cetinkaya, Sebahat Yilmaz, Ağladioğlu, Havva Nur Peltek, Kendirci, Filiz, Senocak   +5 more
openaire   +2 more sources

Localization of the Thiamine-Responsive Megaloblastic Anemia Syndrome Locus to a 1.4-cM Region of 1q23 [PDF]

Molecular Genetics and Metabolism, 1999
Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive syndrome characterized by megaloblastic anemia, deafness, and diabetes mellitus. A genome scan previously established linkage of this disorder to 1q23 and haplotype analysis defined a 16-cM critical region.
Robert J. Desnick, George A Diaz, Bruce D. Gelb   +2 more
exaly   +4 more sources

Monogenic Diabetes Syndromes: Locus-Specific Databases for Alström, Wolfram, and Thiamine-Responsive Megaloblastic Anemia [PDF]

Human Mutation, 2017
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1 ...
Richard Sinnott, Robert K Semple, Tamara Hershey   +2 more
exaly   +7 more sources

Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report

European Journal of Pediatrics, 2013
Thiamine-responsive megaloblastic anemia (TRMA) or Roger syndrome is a rare autosomal recessive disorder characterized by the occurrence of multiple clinical manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness. A few patients have been also described with congenital cardiac malformations.
Mohammad Taghi, Akbari, Shohreh, Zare Karizi, Reza, Mirfakhraie, Bijan, Keikhaei   +3 more
openaire   +2 more sources

Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy

Ophthalmic Genetics, 2000
Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disease in which the active thiamine uptake into cells is disturbed. The molecular basis underlying the disorder has been related to mutations in the gene SLC19A2 on chromosome 1q23.3 that encodes a functional thiamine transporter.
F M, Meire, , Van Genderen MM, K, Lemmens, M H, Ens-Dokkum   +3 more
openaire   +2 more sources