Atıf İçin Kopyala
Cirak S., Daimaguler H., Moawia A., Koy A., YİŞ U.
MEDIZINISCHE GENETIK, cilt.32, sa.3, ss.243-261, 2020 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
32
Sayı:
3
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Basım Tarihi:
2020
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Doi Numarası:
10.1515/medgen-2020-2040
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Dergi Adı:
MEDIZINISCHE GENETIK
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
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Sayfa Sayıları:
ss.243-261
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Anahtar Kelimeler:
neuropathy, neurogenetic diseases, metabolic diseases, motor-neuron diseases, POLYGLUCOSAN BODY DISEASE, PERIPHERAL NEUROPATHY, TANGIER DISEASE, HOMOZYGOUS MUTATION, PHENOTYPIC SPECTRUM, MUSCULAR-DYSTROPHY, CLINICAL SPECTRUM, FRIEDREICH ATAXIA, NATURAL-HISTORY, RNA-METABOLISM
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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.