Page last updated: 2024-10-20

thiamine and Pigmentary Retinopathy

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.

Research Excerpts

ExcerptRelevanceReference
"Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive disorder characterized by diabetes mellitus (DM), progressive sensorineural deafness, and thiamine-responsive anemia."7.72Novel 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."3.80Leber'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."3.75Thiamine 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."3.72Novel 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)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (66.67)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Srikrupa, NN1
Meenakshi, S1
Arokiasamy, T1
Murali, K1
Soumittra, N1
Mathews, L1
Narayanadas, K1
Sunil, G1
Lagarde, WH1
Underwood, LE1
Moats-Staats, BM1
Calikoglu, AS1

Other Studies

3 other studies available for thiamine and Pigmentary Retinopathy

ArticleYear
Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
    Ophthalmic genetics, 2014, Volume: 35, Issue:2

    Topics: Anemia, Megaloblastic; Diabetes Mellitus; Exons; Female; Hearing Loss, Sensorineural; Humans; Infant

2014
Thiamine responsive megaloblastic anemia.
    Indian pediatrics, 2009, Volume: 46, Issue:2

    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.
    American journal of medical genetics. Part A, 2004, Mar-15, Volume: 125A, Issue:3

    Topics: Anemia, Megaloblastic; Black or African American; Diabetes Mellitus; DNA Mutational Analysis; Female

2004