Page last updated: 2024-10-17

lactic acid and Ptosis, Eyelid

lactic acid has been researched along with Ptosis, Eyelid 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.

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)
"X-linked myotubular myopathy is a congenital myopathy due to mutation in the MTM1 gene, encoding myotubularin."1.34Diagnosis 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)

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19901 (33.33)18.7374
1990's0 (0.00)18.2507
2000's1 (33.33)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Quintana, E1
Pineda, M1
Font, A1
Vilaseca, MA1
Tort, F1
Ribes, A1
Briones, P1
Pénisson-Besnier, I1
Biancalana, V1
Reynier, P1
Cossée, M1
Dubas, F1
Lössner, J1
Lehmann, W1
Kühn, HJ1
Ziegan, J1
Brehme, M1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy[NCT01840657]33 participants (Actual)Observational2013-04-30Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Other Studies

3 other studies available for lactic acid and Ptosis, Eyelid

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
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.
    Neuromuscular disorders : NMD, 2007, Volume: 17, Issue:2

    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].
    Psychiatrie, Neurologie und medizinische Psychologie. Beihefte, 1983, Volume: 29

    Topics: Adult; Biopsy; Blepharoptosis; Brain Stem; Enzymes; Humans; Lactates; Lactic Acid; Male; Muscles; Ne

1983