Results 121 to 130 of about 988,052 (165)
Some of the next articles are maybe not open access.
Congenital and Metabolic Myopathies
Brain and Development, 1983Among various myopathies, two distinct groups are briefly summarized: congenital myopathies of which the disease concepts are based on the morphological findings of the structure of muscle fibers, and metabolic myopathies in which muscular involvement has been clarified or strongly suggested to be due to primary biochemical defects within the fibers ...
Masao Kinoshita
exaly +3 more sources
[Metabolic myopathies - an overview].
Der Pathologe, 2009 Metabolic disorders of energy production characterise the group of rare, mainly autosomal recessively inherited metabolic muscular diseases which are often associated with multi-systemic symptoms. In this report, an update on the clinics, pathophysiology, pathomorphology and current treatment options of metabolic myopathies will be given.
Lammens, M.M.Y., Schoser, B.
openaire +4 more sources
Painful Myopathies–Metabolism of Muscle Cells and Metabolic Myopathies
Journal of Musculoskeletal Pain, 2004SUMMARYMyalgias may be caused by intrinsic muscular factors [inflammation, mechanical disturbances, ischemia, metabolic abnormalities, membrane alterations] or by extrinsic factors like diseases of the peripheral or central nervous system. Primary metabolic myopathies are mostly caused by disturbances of energy metabolism.
Heinz Reichmann
exaly +2 more sources
Diagnosis and Management of Metabolic Myopathies
Muscle and Nerve, 2023 Metabolic myopathies are a set of rare inborn errors of metabolism leading to disruption in energy production. Relevant to skeletal muscle, glycogen storage disease and fatty acid oxidation defects can lead to exercise intolerance, rhabdomyolysis, and ...
John Vissing, Salman Bhai
exaly +2 more sources
Exercise Training in Metabolic Myopathies
Revue Neurologique, 2016 Metabolic myopathies encompass muscle glycogenoses (GSD) and disorders of muscle fat oxidation (FAOD). FAODs and GSDs can be divided into two main clinical phenotypes; those with static symptoms related to fixed muscle weakness and atrophy, and those ...
John Vissing
exaly +2 more sources
Current Rheumatology Reports, 2010
We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respiratory chain. Among the glycogenoses, new attention has been directed to defects of glycogen synthesis resulting in absence rather than excess of muscle glycogen ("aglycogenosis").
DiMauro S., Garone C., Naini A.
openaire +3 more sources
We consider recent developments in disorders affecting three areas of metabolism: glycogen, fatty acids, and the mitochondrial respiratory chain. Among the glycogenoses, new attention has been directed to defects of glycogen synthesis resulting in absence rather than excess of muscle glycogen ("aglycogenosis").
DiMauro S., Garone C., Naini A.
openaire +3 more sources
Metabolic Myopathies: Functional Evaluation by Different Exercise Testing Approaches
Musculoskeletal Surgery, 2011 Metabolic myopathies are a clinically and etiologically heterogeneous group of disorders due to defects in muscular energy metabolism. They include glycogen storage diseases, fatty acid oxidation defects, and mitochondrial disorders.
Gabriele Siciliano +2 more
exaly +2 more sources
Current Opinion in Rheumatology, 1991
The term metabolic myopathy refers to a heterogeneous group of conditions that have in common abnormalities of muscle energy metabolism that result in skeletal muscle dysfunction. Most recognized metabolic myopathies are considered primary, represent inborn errors of metabolism, and are associated with known or postulated defects that affect the ...
Finocchiaro, G +6 more
openaire +5 more sources
The term metabolic myopathy refers to a heterogeneous group of conditions that have in common abnormalities of muscle energy metabolism that result in skeletal muscle dysfunction. Most recognized metabolic myopathies are considered primary, represent inborn errors of metabolism, and are associated with known or postulated defects that affect the ...
Finocchiaro, G +6 more
openaire +5 more sources
Treatment Opportunities in Patients With Metabolic Myopathies
Current Treatment Options in Neurology, 2017 Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with exercise-induced pain, contractures or stiffness, fatigue, and myoglobinuria ...
John Vissing, Mette C Ørngreen
exaly +2 more sources
American Journal of Medical Genetics, 1986
AbstractSix glycogen storage diseases (resulting from deficiencies of acid maltase, phosphorylase, phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase) and one mitochondrial myopathy (cytochrome c oxidase deficiency) are reviewed to illustrate: 1) clinical heterogeneity, 2) biochemical heterogeneity, 3 ...
Salvatore DiMauro +8 more
openaire +3 more sources
AbstractSix glycogen storage diseases (resulting from deficiencies of acid maltase, phosphorylase, phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase) and one mitochondrial myopathy (cytochrome c oxidase deficiency) are reviewed to illustrate: 1) clinical heterogeneity, 2) biochemical heterogeneity, 3 ...
Salvatore DiMauro +8 more
openaire +3 more sources