Results 281 to 290 of about 160,746 (308)

Mitochondrial Disorders: An Overview

Journal of Bioenergetics and Biomembranes, 1997
The past few years have seen extraordinary advances in our understanding of mitochondrial involvement in human pathology, and this has been reflected in the proliferation of reviews covering this topic. In this issue, which should prove complementary to others in this area, topics have been selected to cover regions of mitochondrial research in which ...
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Therapy of mitochondrial disorders

Journal of Inherited Metabolic Disease, 1987
AbstractMitochondrial disorders, namely defects of fatty acid oxidation, defects of pyruvate metabolism and defects of the respiratory chain are heterogenous in clinical picture and in response to therapeutic attempts. Defects of fatty acid metabolism are amenable to therapy by dietary means, carnitine substitution and in some cases with vitamins ...
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Dominance in mitochondrial disorders

Journal of Inherited Metabolic Disease, 2005
SummaryDominant traits are rare in mitochondrial disorders but include important nosological entities such as alterations of organellar biogenesis and abnormalities in the structural integrity of the mitochondrial genome, determined by mutations in genes involved in its maintenance and propagation.
Zeviani M., CARELLI, VALERIO
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Neuroimaging in mitochondrial disorders

Essays in Biochemistry, 2018
MRI and 1H magnetic resonance spectroscopy (1HMRS) are the main neuroimaging methods to study mitochondrial diseases. MRI can demonstrate seven ‘elementary’ central nervous system (CNS) abnormalities in these disorders, including diffuse cerebellar atrophy, cerebral atrophy, symmetric signal changes in subcortical structures (basal ganglia, brainstem ...
Masclachi M, Montomoli M, Guerrini R
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Inherited Mitochondrial Disorders

2011
Though inherited mitochondrial disorders (MIDs) are most well known for their syndromic forms, for which widely known acronyms (MELAS, MERRF, NARP, LHON etc.) have been coined, the vast majority of inherited MIDs presents in a non-syndromic form. Since MIDs are most frequently multisystem disorders already at onset or during the disease course, a MID ...
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Inheritance of mitochondrial disorders

Mitochondrion, 2002
Over the last decade there have been major advances in our understanding of the genetic basis of mitochondrial disease, enabling genetic counseling for patients with autosomal dominant and autosomal recessive disorders. Genetic counseling for patients with mitochondrial DNA (mtDNA) mutations is less well established.
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Anesthesia and mitochondrial disorders

Pediatric Anesthesia, 2008
Schwartz, Donald, MD, Raghunathan, Karthik, MD   +1 more
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Suspected Mitochondrial Disorder

2010
Lactate elevations in blood, CSF, or urine or frank lactic acidosis are a hallmark of disorders of energy metabolism, more specifically respiratory chain disorders, disorders of oxidative phosphorylation, mitochondrial disorders, or mitochondriopathies. These can involve any organ at any age. Organs commonly affected include muscle, brain, retina,
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Mitochondrial Disorders

International Ophthalmology Clinics, 2009
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Mitochondrial dysfunction as a critical event in the pathophysiology of bipolar disorder

Mitochondrion, 2021
Giselli Scaini, Taylor Andrews, Emilio L Streck   +2 more
exaly