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dihydrolipoamide and Blepharoptosis

dihydrolipoamide has been researched along with Blepharoptosis in 1 studies

Blepharoptosis: Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.

Research Excerpts

ExcerptRelevanceReference
"PDHc deficiency was demonstrated in muscle and fibroblasts without detectable PDHA1 mutations."1.36Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. ( Briones, P; Font, A; Pineda, M; Quintana, E; Ribes, A; Tort, F; Vilaseca, MA, 2010)

Research

Studies (1)

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 (100.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Quintana, E1
Pineda, M1
Font, A1
Vilaseca, MA1
Tort, F1
Ribes, A1
Briones, P1

Other Studies

1 other study available for dihydrolipoamide and Blepharoptosis

ArticleYear
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Acidosis, Lactic; Adult; Amino Acid Sequence; Base Sequence; Biomarkers; Blepharoptosis; Cells, Cult

2010