Page last updated: 2024-10-20

thiamine and Amaurosis, Leber Congenital

thiamine has been researched along with Amaurosis, Leber Congenital in 2 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
"This case demonstrates Leber congenital amaurosis can present as the first clinical feature before systemic manifestations."5.72Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome. ( Sui, R; Sun, Z; Wu, S; Yao, F; Yuan, Z, 2022)
"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 case demonstrates Leber congenital amaurosis can present as the first clinical feature before systemic manifestations."1.72Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome. ( Sui, R; Sun, Z; Wu, S; Yao, F; Yuan, Z, 2022)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's1 (50.00)24.3611
2020's1 (50.00)2.80

Authors

AuthorsStudies
Wu, S1
Yuan, Z1
Sun, Z1
Yao, F1
Sui, R1
Srikrupa, NN1
Meenakshi, S1
Arokiasamy, T1
Murali, K1
Soumittra, N1

Other Studies

2 other studies available for thiamine and Amaurosis, Leber Congenital

ArticleYear
Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine-responsive megaloblastic anemia syndrome.
    American journal of medical genetics. Part A, 2022, Volume: 188, Issue:3

    Topics: Adolescent; Anemia, Megaloblastic; Child; China; Diabetes Mellitus; Hearing Loss, Sensorineural; Hum

2022
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