lactic acid has been researched along with Blepharoptosis in 3 studies
Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.
Blepharoptosis: Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
| Excerpt | Relevance | Reference |
|---|---|---|
| "PDHc deficiency was demonstrated in muscle and fibroblasts without detectable PDHA1 mutations." | 1.36 | Dihydrolipoamide 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) |
| "X-linked myotubular myopathy is a congenital myopathy due to mutation in the MTM1 gene, encoding myotubularin." | 1.34 | Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study. ( Biancalana, V; Cossée, M; Dubas, F; Pénisson-Besnier, I; Reynier, P, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (33.33) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (33.33) | 29.6817 |
| 2010's | 1 (33.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Quintana, E | 1 |
| Pineda, M | 1 |
| Font, A | 1 |
| Vilaseca, MA | 1 |
| Tort, F | 1 |
| Ribes, A | 1 |
| Briones, P | 1 |
| Pénisson-Besnier, I | 1 |
| Biancalana, V | 1 |
| Reynier, P | 1 |
| Cossée, M | 1 |
| Dubas, F | 1 |
| Lössner, J | 1 |
| Lehmann, W | 1 |
| Kühn, HJ | 1 |
| Ziegan, J | 1 |
| Brehme, M | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy[NCT01840657] | 33 participants (Actual) | Observational | 2013-04-30 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
3 other studies available for lactic acid and Blepharoptosis
| Article | Year |
|---|---|
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
Topics: Acidosis, Lactic; Adult; Amino Acid Sequence; Base Sequence; Biomarkers; Blepharoptosis; Cells, Cult | 2010 |
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.
Topics: Aged, 80 and over; Blepharoptosis; Blotting, Southern; Chromosomes, Human, X; Creatine Kinase; DNA; | 2007 |
[Ophthalmoplegia plus. On nosologic, biochemical, morphologic and computer tomographic aspects of the oculocraniosomatic syndrome].
Topics: Adult; Biopsy; Blepharoptosis; Brain Stem; Enzymes; Humans; Lactates; Lactic Acid; Male; Muscles; Ne | 1983 |