Giant axonal neuropathy: normal protein composition of neurofilaments.

A 14-year-old boy had progressive weakness and ataxia since two years of age with tightly curled hair, facial diplegia, distal weakness and hypaesthesia, cerebellar syndrome and normal intelligence. He also had distal renal tubular acidosis manifested by metabolic acidosis. Sural nerve ultrastructur...

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Detaylı Bibliyografya
Asıl Yazarlar: Ionasescu, V, Searby, C, Rubenstein, P, Sandra, A, Cancilla, P, Robillard, J
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1983
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1027447/
https://ncbi.nlm.nih.gov/pubmed/6410005
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