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“Think metabolic” in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder
Neurologists should consider the possibility of an inherited metabolic disorder in adults with neurologic symptoms that may or may not mimic those seen in affected children, such as in the case of biotinidase deficiency. Because many of these disorders are treatable, they must be included in the dif...
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| Publicat a: | Neurol Clin Pract |
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| Autor principal: | |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Lippincott Williams & Wilkins
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5800716/ https://ncbi.nlm.nih.gov/pubmed/29431165 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/CPJ.0000000000000379 |
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