Results 121 to 130 of about 565,186 (153)

Thiamine-responsive megaloblastic anemia

The Journal of Pediatrics, 1969
An 11-year-old Caucasian girl is presented who had a megaloblastic anemia responsive only to thiamine. Other abnormalities included diabetes mellitus, aminoaciduria, and sensorineural deafness. Initially the anemia, refractory to vitamin B 12 and folic acid therapy, responded to administration of a multiple vitamin preparation. Vitamin supplementation
F S, Porter, L E, Rogers, J B, Sidbury
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Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus and Sensorineural Deafness

Pediatrics International, 1993
AbstractThis study introduces a patient who has thiamine and thiamine pyrophosphokinase (TPKase) enzyme deficiency associated with diabetes mellitus, sensorineural deafness and thiamine‐responsive megaloblastic anemia. Diabetes mellitus was diagnosed when she was 20 months old.
Klara Dalva, Ayşehan Akıncı
exaly   +4 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
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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
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Endoplasmic Reticulum Stress in the Pathogenesis of Hyperglycemia Induced by Thiamine-Responsive Megaloblastic Anemia

Clinical Laboratory, 2023
Thiamine responsive megaloblastic anemia (TRMA) is a genetic disease caused by SLC19A2 gene mutation. This study aimed to preliminarily explore the relationship between endoplasmic reticulum stress (ERS)-PERK signaling pathway and the pathogenesis of hyperglycemia induced by TRMA.Islet β (INS.1 and β-TC-6) and HEK293T cell line models with stable ...
Xuan, Zhang, Yuan-Yuan, Qin, Yuping, Ye, Fa-Quan, Lin   +3 more
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Thiamine Responsive Megaloblastic Anemia in Three Indian Children

The Indian Journal of Pediatrics, 2011
Case 1 A 12-month-old boy, born to a nonconsanguineous Hindu couple was brought for evaluation of recurrent severe pallor, skin bleeds and hearing impairment. There had been short lasting response to prior treatment with Packed Red Blood Cells (PRBC), oral iron, folic acid and vit. B12.
Vykunta Raju K. N. Gowda, null Shivananda, null Govindaraj M., Naveen Sankhyan   +3 more
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Mystery of thiamine-responsive megaloblastic anemia unlocked

Blood, 2003
Megaloblastic changes in the bone marrow are morphologically quite distinctive, and the several causes of this condition, including specific nutrient deficiencies, metabolic errors, and certain drugs, are well described.
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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
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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   +3 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
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