On the differential diagnosis of neuropathy in neurogenetic disorders
MEDIZINISCHE GENETIK, cilt.32, sa.3, ss.243-261, 2020 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 32 Sayı: 3
- Basım Tarihi: 2020
- Doi Numarası: 10.1515/medgen-2020-2040
- Dergi Adı: MEDIZINISCHE GENETIK
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
- Sayfa Sayıları: ss.243-261
- Anahtar Kelimeler: neuropathy, neurogenetic diseases, metabolic diseases, motor-neuron diseases
- Dokuz Eylül Üniversitesi Adresli: Evet
Özet
Neuropathy might be the presenting or accompanying sign in many neurogenetic and metabolic disorders apart from the classical-peripheral neuropathies or motor-neuron diseases. This causes a diagnostic challenge which is of particular relevance since a number of the underlying diseases could be treated. Thus, we attempt to give a clinical overview on the most common genetic diseases with clinically manifesting neuropathy.