Results 101 to 110 of about 458 (127)

Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome

American Journal of Medical Genetics Part A, 2021
AbstractThiamine‐responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder, inherited by the defective SLC19A2 gene that encodes a high‐affinity thiamine transporter (THTR‐1). TRMA is characterized by the occurrence of classical triad manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness ...
Shijing Wu, Zhisheng Yuan, Zixi Sun, Fengxia Yao, Ruifang Sui   +4 more
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Thiamine-Responsive Megaloblastic Anemia Syndrome: A Disorder of High-Affinity Thiamine Transport

Blood Cells, Molecules, and Diseases, 2001
Thiamine-responsive megaloblastic anemia (TRMA) syndrome (OMIM No. 249270) comprises a distinctive triad of clinical features: megaloblastic anemia with ringed sideroblasts, diabetes mellitus, and progressive sensorineural deafness. The TRMA gene has been mapped and cloned.
E J, Neufeld, J C, Fleming, E, Tartaglini, M P, Steinkamp   +3 more
openaire   +2 more sources

Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity

Human Genetics, 1998
Thiamine-responsive megaloblastic anemia (TRMA, also known as Rogers syndrome, OMIM 249270) is a rare autosomal recessive disorder characterized by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Patients respond, to varying degrees, to treatment with megadoses of thiamine.
T, Raz, T, Barrett, R, Szargel, H, Mandel, E J, Neufeld, K, Nosaka, M B, Viana, N, Cohen   +7 more
openaire   +2 more sources

Thiamine-responsive megaloblastic anemia syndrome: a novel mutation.

Genetic counseling (Geneva, Switzerland), 2012
The thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A2 that encodes a thiamine transporter protein.
S, Yilmaz Agladioglu, Z, Aycan, V N, Bas, H N, Peltek Kendirci, A, Onder   +4 more
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Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome?

The Journal of Pediatrics, 1978
A 6-year-old girl is described who has congenital megaloblastic anemia which completely responded only to pharmacologic doses of thiamine. Relapse was observed twice when the drug was discontinued. The reintroduction of thiamine caused a prompt reticulocytosis and a rise in hemoglobin concentration. Other abnormalities included latent diabetes mellitus,
M B, Viana, R I, Carvalho
openaire   +2 more sources

Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified

American Journal of Medical Genetics Part A, 2015
Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three main features are characteristic of the disease – megaloblastic anemia, early onset deafness, and non‐type I diabetes. TRMAS is a Mendelian disorder; a gene SLC19A2 coding high affinity thiamine
Violeta, Mikstiene, Jurgita, Songailiene, Jekaterina, Byckova, Giedre, Rutkauskiene, Edita, Jasinskiene, Rasa, Verkauskiene, Eugenijus, Lesinskas, Algirdas, Utkus   +7 more
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[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].

La Revue de medecine interne, 2019
Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive disease characterized by three main components: megaloblastic anemia, diabetes mellitus and sensorineural deafness. Those features occur in infancy but may arise during adolescence. Diagnosis relies on uncovering genetic variations (alleles) in
Lu H, Lu H, Vaucher J, Tran C, Vollenweider P, Castioni J   +5 more
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Novel mutation in the SLC19A2 gene in Thiamine-responsive megaloblastic anemia (Rogers’ syndrome)

2012
Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA.  This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive ...
Ghaemi, Nosrat, Ghahraman, Martha, Abbaszadegan, Mohammad Reza, Vakili, Rahim   +3 more
openaire   +1 more source

Thiamine-responsive megaloblastic anemia syndrome with dysrhythmia

Endocrine Abstracts, 2020
Ebrashy Ibrahim El, Haddad Hemmat El, Heba Moustafa, Mai Galal, Randa Salam, Mohamed Magdi   +5 more
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Effect of management of thiamine responsive megaloblastic anemia syndrome with sulbutiamine

2017
Introduction: thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive metabolic disorder. Management of TRMAS focuses on lifelong use of pharmacologic doses of thiamine (Th). High-dose Th may ameliorate diabetes, anemia and, conjecture, hearing defect if started from birth or prenatally.
Mikštienė, Violeta, Songailienė, Jurgita, Byčkova, Jekaterina, Rutkauskienė, Giedrė, Jašinskienė, Edita, Verkauskienė, Rasa, Lesinskas, Eugenijus, Utkus, Algirdas   +7 more
openaire   +1 more source