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Differential
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acyl CoA dehydrogenase deficiency
cardiomyopathy
carnitine deficiency
carnitine deficiency myopathy
cyclic vomiting
delay in diagnosis
difficulty climbing stairs
dropped head syndrome
dysphagia
dyspnea
electromyogram
enzyme, defect
exercise intolerance
exercise-induced neurologic dysfunction
fatigue
fluctuate
gait disorder
gene mutation
genetic neurologic disorders
genetic testing
hepatomegaly
hypoglycemia
inborn errors of metabolism
inborn errors of metabolism, screening
lipid storage myopathy
metabolic acidosis
misdiagnosis
mortality
MRI, muscle
muscle biopsy
muscle pain
muscle weakness, proximal
muscular dystrophy, Duchenne, neonatal screening
myopathy
myopathy, genetic
myopathy, metabolic
myopathy, proximal
myopathy, vacuolar
nausea and vomiting
neck weakness
neonatal screening, genetic neurologic disorders
neurologic disease, diagnoses of
neuromuscular disease, electrodiagnosis of
precipitating factors
progressive neurologic disorder
respiratory failure
review article
riboflavin
treatment of neurologic disorder
weakness
weakness, fluctuating
weakness, progressive
weakness, proximal
Showing articles 0 to 4 of 4

Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019

A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
Neurol 91:187-190, Silva,A.M.S.,et al, 2018

Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
Lancet 369:37-42,5, Wilcken,B.,et al, 2007

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Frequently Missed Diagnosis?
Neurol 67:1519, Koppel,S.,et al, 2006



Showing articles 0 to 4 of 4