Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataracts (PHARC) screening in an Italian population
| Autor: | E. Salsano, A. Filla, R. Carbone, Giuseppe De Michele, Maria Lieto, Chiara Criscuolo, Anna Guacci, L. Nanetti |
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| Přispěvatelé: | Criscuolo, C, Guacci, Anna, Carbone, R, Lieto, Maria, Salsano, Elisa, Nanetti, L, DE MICHELE, Giuseppe, Filla, Alessandro |
| Rok vydání: | 2013 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Ataxia Adolescent Hearing loss Audiology Cataract Consanguinity Polyneuropathies Young Adult Cataracts Retinitis pigmentosa medicine Humans Age of Onset Child Hearing Loss business.industry Infant Newborn Infant Syndrome medicine.disease Italian population Monoacylglycerol Lipases Refsum disease Neurology Italy Child Preschool Mutation Female Neurology (clinical) medicine.symptom business Polyneuropathy Retinitis Pigmentosa |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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