Article
Diagnosis and pathogenesis of late-onset genetic metabolic encephaloneuromyopathies.
Developmental neuroscience - 1 Jan 1991
Federico A
Abstract excerpt
The strategy of clinical investigations for the diagnosis of the late-onset neurometabolic diseases is reported. The criteria for the diagnostic suspicion are inheritance and multisystem involvement. The different clinical signs that are the basis for further biological investigations are reviewed. The diagnostic confirmation will be obtained by laboratory analyses, some of which can be easily performed in all...
Topics
- Brain Diseases, Metabolic
- Clinical Laboratory Techniques
- DNA
- Enzymes
- Heterozygote
- Humans
- Lysosomes
- Mitochondria
- Models, Neurological
- Phenotype