thiamine has been researched along with Pigmentary Retinopathy in 3 studies
thiamine(1+) : A primary alcohol that is 1,3-thiazol-3-ium substituted by (4-amino-2-methylpyrimidin-5-yl)methyl, methyl and 2-hydroxyethyl groups at positions 3, 4 and 5, respectively.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus (DM), progressive sensorineural deafness, and thiamine-responsive anemia." | 7.72 | Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. ( Calikoglu, AS; Lagarde, WH; Moats-Staats, BM; Underwood, LE, 2004) |
| "A female child presented with Leber's congenital amaurosis at 10 months of age, later diagnosed with hearing impairment at 1 year, diabetes mellitus and megaloblastic anemia at 3 and a half years of age and hence as a case of thiamine responsive megaloblastic anemia." | 3.80 | Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report. ( Arokiasamy, T; Meenakshi, S; Murali, K; Soumittra, N; Srikrupa, NN, 2014) |
| "This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine." | 3.75 | Thiamine responsive megaloblastic anemia. ( Mathews, L; Narayanadas, K; Sunil, G, 2009) |
| "Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus (DM), progressive sensorineural deafness, and thiamine-responsive anemia." | 3.72 | Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome. ( Calikoglu, AS; Lagarde, WH; Moats-Staats, BM; Underwood, LE, 2004) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (66.67) | 29.6817 |
| 2010's | 1 (33.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Srikrupa, NN | 1 |
| Meenakshi, S | 1 |
| Arokiasamy, T | 1 |
| Murali, K | 1 |
| Soumittra, N | 1 |
| Mathews, L | 1 |
| Narayanadas, K | 1 |
| Sunil, G | 1 |
| Lagarde, WH | 1 |
| Underwood, LE | 1 |
| Moats-Staats, BM | 1 |
| Calikoglu, AS | 1 |
3 other studies available for thiamine and Pigmentary Retinopathy
| Article | Year |
|---|---|
Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
Topics: Anemia, Megaloblastic; Diabetes Mellitus; Exons; Female; Hearing Loss, Sensorineural; Humans; Infant | 2014 |
Thiamine responsive megaloblastic anemia.
Topics: Anemia, Megaloblastic; Child; Comorbidity; Diabetes Mellitus; Female; Hearing Loss, Sensorineural; H | 2009 |
Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome.
Topics: Anemia, Megaloblastic; Black or African American; Diabetes Mellitus; DNA Mutational Analysis; Female | 2004 |