Inborn errors of metabolism and motor disturbances in children
| العنوان: | Inborn errors of metabolism and motor disturbances in children |
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| المؤلفون: | Mercedes Pineda, Mercedes Serrano, Angels García-Cazorla, Nicole I. Wolf, Emilio Fernández-Alvarez, Jaime Campistol, Georg F. Hoffmann, Salvatore DiMauro, Jaume Colomer, Belén Pérez-Dueñas |
| المساهمون: | Pediatric surgery, NCA - Childhood White Matter Diseases |
| المصدر: | Journal of Inherited Metabolic Disease, 32(5), 618-629. Springer Netherlands Garcia-Cazorla, A, Wolf, N I, Serrano, M, Perez-Duenas, B, Pineda, M, Campistol, J, Fernandez-Alvarez, E, Colomer, J, DiMauro, S & Hoffmann, G F 2009, ' Inborn errors of metabolism and motor disturbances in children ', Journal of Inherited Metabolic Disease, vol. 32, no. 5, pp. 618-629 . https://doi.org/10.1007/s10545-009-1194-9Test |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, Ataxia, Movement disorders, Diagnosis, Differential, Physical medicine and rehabilitation, Genetics, medicine, Humans, Spasticity, Motor Neuron Disease, Child, Genetics (clinical), Athetosis, Dystonia, Movement Disorders, business.industry, Parkinsonism, Peripheral Nervous System Diseases, Motor disturbances, medicine.disease, Muscle Spasticity, medicine.symptom, Differential diagnosis, business, Algorithms, Metabolism, Inborn Errors |
| الوصف: | Motor disturbances are very common in paediatric neurology. Often families can be reassured that these are just variants of normal development. However, abnormal movements can also be the hallmark of severe brain dysfunction of different and complex origins. This review concentrates on motor disturbances as frequent and important symptoms of inborn errors of metabolism. A structured diagnostic approach is developed taking into account age-dependent physiological developments and pathophysiological responses of gross and fine motor functions. A series of investigations are presented with the primary aim of early diagnosis of treatable conditions. The correct recognition and differentiation of movement disorders (ataxia, rigid akinetic syndrome (‘parkinsonism’), dystonia, athetosis, tremor, and others), spasticity, and neuromuscular disorders, requires profound neurological expertise. A high level of suspicion and close interaction between paediatric neurologists and specialists in inborn errors of metabolism are indispensable to effectively and timely identify patients in whom motor disturbances are the presenting and/or main symptom of an inborn error. |
| وصف الملف: | application/pdf |
| تدمد: | 0141-8955 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e89aba0f6740f2ab221f030e8afcc4eTest https://doi.org/10.1007/s10545-009-1194-9Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8e89aba0f6740f2ab221f030e8afcc4e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 01418955 |
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