treatment of mitochondrial cytopathies
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چکیده
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منابع مشابه
Neurological mitochondrial cytopathies.
The mitochondrial cytopathies are genetically and phenotypically heterogeneous group of disorders caused by structural and functional abnormalities in mitochondria. To the best of our knowledge, there are very few studies published from India till date. Selected and confirmed fourteen cases of neurological mitochondrial cytopathies with different clinical syndromes admitted between 1997 and 200...
متن کاملRenal Mitochondrial Cytopathies
Renal diseases in mitochondrial cytopathies are a group of rare diseases that are characterized by frequent multisystemic involvement and extreme variability of phenotype. Most frequently patients present a tubular defect that is consistent with complete De Toni-Debré-Fanconi syndrome in most severe forms. More rarely, patients present with chronic tubulointerstitial nephritis, cystic renal dis...
متن کاملCommentary: Human mitochondrial cytopathies.
Mitochondria provide energy (ATP) for all eukaryotic cells except mature erythrocytes and keratinocytes. They are abundant in cells that expend much energy, such as muscle, exocrine pancreas, nervous system, and heart cells, and motile sperm. Many mitochondrial enzymes are encoded by nuclear DNA and imported into the mitochondria. Like bacteria, mitochondria possess their own DNA and ribosomes....
متن کاملMitochondrial cytopathies, phenotypic heterogeneity and a high incidence.
Mitochondrial respiratory chain disorders account for significant and varied presentations in paediatric practice. The true prevalence of these disorders in the paediatric population is still not well documented with predicted geographic variation. We report a retrospective analysis over a seven year period of cases presenting to a tertiary care centre and associated clinical features. The over...
متن کاملThe mitochondrial cocktail: rationale for combined nutraceutical therapy in mitochondrial cytopathies.
Mitochondrial cytopathies ultimately lead to a reduction in aerobic energy transduction, depletion of alternative energy stores, increased oxidative stress, apoptosis and necrosis. Specific combinations of nutraceutical compounds can target many of the aforementioned biochemical pathways. Antioxidants combined with cofactors that can bypass specific electron transport chain defects and the prov...
متن کاملAcute tubular dysfunction with Fanconi syndrome: a new manifestation of mitochondrial cytopathies.
S b es itochondrial diseases are a heterogeneous group of energy metabolism disorders hat can affect almost any organ. Kidney disease s well-known in patients with mitochondrial isorders, most commonly manifesting as proxial tubulopathy with chronic tubular acidosis, ypically a minor feature in pediatric patients ith severe involvement of brain, liver, heart, or ther organs. Other renal present...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۷، شماره ۴، صفحات ۱۶-۱۷
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