Two eminently treatable genetic metabolic myopathies
Treatment of the genetic metabolic myopathies remains generally unsatisfactory with the exception of a select few. Multiple Acyl Co-A Dehydrogenase Deficiency (Glutaric Aciduria type II), in particular, has been shown to respond well to riboflavin ...
Yee, Woon-Chee
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Visual hallucinations in a patient with adult onset acid maltase deficiency disorder. [PDF]
Patil R, Depriest JL.
europepmc +1 more source
[Myopathy caused by acid maltase deficiency in an adult].
We report a 46 years old male presenting with tetraparesis and severe respiratory involvement. He had moderately elevated serum creatine phosphokinase values and the electromyography showed myopathic alterations and irritative signs. In the muscle biopsy, a vacuolar myopathy with increased collagen deposits was found.
L, Cartier, J G, Cea, A, Slachevsky
openaire +1 more source
The hypoglycemic metabolites and potential mechanisms of <i>Lilium lancifolium</i> (<i>Juandan</i> lily). [PDF]
Wu Q +7 more
europepmc +1 more source
α-Glucosidase-driven metabolism as a potential therapeutic vulnerability in <i>Candida albicans</i>. [PDF]
Mitra J +5 more
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Adult-onset acid maltase deficiency: A rare clinical presentation
info:eu-repo/semantics ...
Comi, Giacomo Pietro +10 more
core
Effects of Dietary Methionine and Lysine Balance on Intestinal Function and Immune Organ Development in Wanxi White Geese During the Brooding Period. [PDF]
Shi S +7 more
europepmc +1 more source
When 'Liver Enzymes' Are Not Hepatic: Late-Onset Pompe Disease. [PDF]
Madigan S, England G, Rankin W.
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Editorial Note: The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease. [PDF]
PLOS One Editors.
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