نتایج جستجو برای: motor neuron disease
تعداد نتایج: 1665205 فیلتر نتایج به سال:
novel mutations in sandhoff disease: a molecular analysis among iranian cohort of infantile patients
background: sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of gm2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles. pathogenic mutations in hexb gene were observed which leads to enzyme activity reduction and interruption of normal metabolic cycle of gm2 ga...
amyotrophic lateral sclerosis (als) misdiagnosis has many broad implications for the patient and the neurologist. potentially curative treatments exist for certain als mimic syndromes, but delay in starting these therapies may have an unfavorable effect on outcome. hence, it is important to exclude similar conditions. in this review, we discuss some of the important mimics of als.
amyotrophic lateral sclerosis (als), the most common form of motor neuron disease, is a progressive and devastating disease involving both lower and upper motor neurons, typically following a relentless progression towards death. therefore, all efforts must be made by the clinician to exclude alternative and more treatable entities. als with laboratory abnormalities of uncertain significance is...
Introduction: The purpose of this article is to evaluate the status of articles in the field of Spinal Muscular Atrophy According to the Scientometrics indices Word co-occurrence map of this field . Methods: The present study is an applied one with a quantitative approach and a descriptive approach. It has been done using scientometrics and the co-occurrence words analysis technique. Document...
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by death of motor neurons leading to devastating muscle weakness and wasting and weight loss. It causes mixed picture of lower motor neuron (LMN) and upper motor neuron (UMN) dysfunction. The wide spectrums of atypical presentations can frequently lead to expensive work-up and undue delay in diagnosis o...
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