Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective To study the muscular pathological characteristics in riboflavin-responsive lipid storage myopathy before and after treatment. Methods A 10-year follow-up visit was made on a patient with riboflavin-responsive lipid storage myopathy, and ...
Ding-bang CHEN +8 more
doaj
Neurons containing retrogradely transported Fluoro-Gold exhibit a variety of lysosomal profiles: a combined brightfield, fluorescence, and electron microscopic study. [PDF]
, 1989 The advantages of axonally transported Fluoro-Gold as a retrograde fluorescent marker are numerous. The objective of the present study was to determine whether transported Fluoro-Gold is visible in either semi-thin sections for light microscopy or thin ...
Fallon, JH +3 more
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Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective The clinical manifestation and electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation of riboflavin-responsive lipid storage myopathy were analyzed for early diagnosis and treatment.mutation of riboflavin-responsive lipid storage
Ji-qing CAO +11 more
doaj
Stimulation of liver growth and DNA synthesis by glucosylceramide [PDF]
, 1988 The nature of the growth‐stimulating effect of glucosylceramide was studied. Mice were injected intraperitoneally with emulsified glucosylceramide and conduritol B epoxide, an inhibitor of cerebroside glucosidase.
Datta, Subhash C., Radin, Norman S.
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Research progress of electrophysiology for the diagnosis of metabolic myopathy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Metabolic myopathies comprise a group of diverse disorders characterized by defects ofn energy metabolism in skeletal muscle cells, including glycogen storage disease (GSD), lipid storage myopathy (LSM) and mitochondrial myopathy.
Lei ZHAO, Li⁃ying CUI
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Die Schweizer Fälle von Splenohepatomegalie (Niemann-Pick) Ein Beitrag zur genetischen Abgrenzung der Phospatid-Lipoidosen [PDF]
, 2017 In this paper a counterpart is given to the data of our investigation about the incidence of infantile amaurotic idiocy (Tay-Sachs) in Switzerland, published here in 1954. The term > is rather unclear and had to be critisised by Letterer. The diagnose of
Hanhart, E.
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Evidence-based treatment of metabolic myopathy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective To evaluate the current treatments and possible adverse reactions of metabolic myopathy, and to develop the best solution for evidence-based treatment.
Yan LIN, Wen-wu ZHANG, Ling LIU
doaj
Niemann-pick disease type A-a case report [PDF]
, 2017 Niemann-Pick Disease is an autosomal recessive disorder of infancy, characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. It is caused by inherited deficiency of an enzyme, acid sphingomyelinase.
Bindu, Rajan +4 more
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Les biomarqueurs dans la maladie de Fabry: relation entre Sphingosine-1 phosphate et Lyso-Gb3 [PDF]
, 2012 Problématique : La maladie de Fabry est une maladie métabolique à stockage lysosomal. C'est une maladie héreditaire à transmission récessive qui concerne l'enzyme alpha-Galactosidase A. Le gène de l'alpha-Galactosidase A (GLA) se trouve au niveau du bras
Moro, D.
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"Who receives statins? Variations in physicians’ prescribing patterns for patients with coronary heart disease, dyslipidemia, and diabetes" [PDF]
Our objective is to estimate the extent to which clinical and non-clinical factors are associated with physicians’ prescribing patterns for statins. The data are from the National Ambulatory Medical Care Survey for the period 1992 through 2004. The three
Bryan Townsend +2 more
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