Disease: Thiamine responsive megaloblastic anemia syndrome
- 50 Years Ago in The Journal of Pediatrics: Thiamine-Responsive Megaloblastic Anemia
- A challenging diagnosis for thiamine transporter deficiency anemia (Rogers syndrome) in two young siblings: A rare case report
- A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia
- A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome
- A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome
- A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia
- A rare case of thiamine-responsive megaloblastic anaemia syndrome: a disorder of high-affinity thiamine transport
- Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome
- An Adult Case of Thiamine-Sensitive Megaloblastic Anemia Syndrome Accidentally Diagnosed Myelodysplastic Syndrome
- An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment
- Arrhythmia in thiamine responsive megaloblastic anemia syndrome
- Atypical presentation of thiamine-responsive megaloblastic anemia in a Chinese baby boy
- Beta cell function and clinical course in three siblings with thiamine-responsive megaloblastic anemia (TRMA) treated with thiamine supplementation
- Bibliometric visualization analysis of thiamine-responsive megaloblastic anemia syndrome
- Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome
- Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome
- Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea
- Cochlear implant and thiamine-responsive megaloblastic anemia syndrome
- Cone-rod dystrophy in thiamine-responsive megaloblastic anemia
- Defect of thiamine transport and activation and related disease
- Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts
- Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA)
- Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype
- Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision
- Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?
- Dyserythropoiesis and myelodysplasia in thiamine-responsive megaloblastic anemia syndrome
- First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G
- Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis
- Galactosemia associated with Rogers syndrome in a 10-month-old infant
- Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies
- Genetic factors in isolated and syndromic esophageal atresia
- Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort
- Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia
- Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes
- Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia
- Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review
- Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia
- Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report
- Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family
- Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome
- Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report
- Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes
- Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2
- Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis
- Megaloblastic anaemia in infancy or early childhood and diabetes as leading symptoms of the TRMA syndrome
- Megaloblastic Anemia
- Megaloblastic Anemia
- Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country
- Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia
- Monogenic diabetes: A single center experience from South India
- Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness - a case report for dual diagnosis
- Neonatal Diabetes Mellitus: Novel Mutations
- Neonatal diabetes mellitus: remission induced by novel therapy
- Neurodegenerative disorders associated with diabetes mellitus
- Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome
- Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient
- Pancytopenia in an adult patient with thiamine-responsive megaloblastic anaemia
- Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome
- Rare case with megaloblastic anaemia
- Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia
- Recurrent psychiatric manifestations in thiamine-responsive megaloblastic anemia syndrome due to a novel mutation c.63_71 delACCGCTC in the gene SLC19A2
- Recurrent Stroke in a Child with TRMA Syndrome and SLC19A2 Gene Mutation
- Relapse of rare diseases during COVID-19 pandemic: bicytopenia in an adult patient with thiamine-responsive megaloblastic anaemia
- Right ventricular dysfunction in thiamine-responsive megaloblastic anaemia syndrome: a case report
- The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2
- Thiamine responsive megaloblastic anaemia complicated with acute Parvovirus infection: A case report
- Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child
- Thiamine responsive megaloblastic anemia
- Thiamine responsive megaloblastic anemia in three Indian children
- Thiamine responsive megaloblastic anemia syndrome
- Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent
- Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified
- Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest
- Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings
- Thiamine responsive megaloblastic anemia: the puzzling phenotype
- Thiamine transporter mutation: an example of monogenic diabetes mellitus
- Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings
- Thiamine-responsive megaloblastic anaemia
- Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families
- Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood
- Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations
- Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review
- Thiamine-responsive megaloblastic anemia syndrome
- Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy
- Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report
- Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report
- Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport
- Thiamine-responsive megaloblastic anemia syndrome: a novel mutation
- Thiamine-responsive megaloblastic anemia syndrome: long term follow-up
- Thiamine-Responsive Megaloblastic Anemia-Related Diabetes: Long-Term Clinical Outcomes in 23 Pediatric Patients From the DPV and SWEET Registries
- Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness
- Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update
- TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature
- TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report
- Ultrastructure of coronary microvessels in conditions of heart reperfusion following prolonged ischemia while applying various methods of artificial hypothermia
- Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options
- Unusual case of thiamine responsive megaloblastic anemia
- Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E
- Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family
- Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia