Clinical Advances in Neuromuscular Diseases: Neurometabolic Disorders
نویسندگان
چکیده
Metabolic myopathies are characterized by the dysfunction of several metabolic pathways that results in a deficiency fuels required to generate energy for muscle contractions [...]
منابع مشابه
Advances in translational research in neuromuscular diseases.
New therapies developed over the past 3 years for previously intractable diseases of skeletal muscle, neuromuscular junctions, peripheral nerves, and motor neurons are now being incorporated into our standard neuromuscular clinical practice. The past 3 years were also marked by important advances in our understanding of the pathogenesis and pathophysiology of inherited and acquired neuromuscula...
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how to cite this article: mohammadi m. clinical neurophysiology in pediatric neurometabolic disorders. iran j child neurol autumn 2014;8:4 (suppl.1):7. pls see pdf.
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how to cite this article: jafari n. neurometabolic disorders, clinical and neuroimaging finding. iran j child neurol. autumn 2014;8;4(suppl.1):23. pls see pdf.
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Great technologic and clinical progress have been made in the last two decades in identifying genetic defects of several neuromuscular diseases, as Spinal Muscular Atrophy, genetic muscular dystrophies and other genetic myopathies. The diagnosis is usually challenging, due to great variability in genetic abnormalities and clinical phenotypes and the poor specificity of complementary analyses, i...
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Feeding and swallowing problems in infants and children have a great impact on health and wellbeing. The aim of this study was to provide an overview of recognized feeding and swallowing problems in different groups of children with neuromuscular diseases, based on relevant literature and expert opinion, and to propose recommendations for the assessment and treatment of these problems. Almost a...
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ژورنال
عنوان ژورنال: Muscles
سال: 2023
ISSN: ['2813-0413']
DOI: https://doi.org/10.3390/muscles2030020