نتایج جستجو برای: giant axonal neuropathy
تعداد نتایج: 119020 فیلتر نتایج به سال:
•N2O toxicity and B12 deficiency both cause a sensory predominant myeloneuropathy. abuse may also lead to selectively severe motor axonal peripheral neuropathy. •This neuropathy phenotype be related N2O direct neural toxicity. •In-vivo measures of dysfunction are more pronounced in abuse.
BACKGROUND Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly" hair. The disease is caused by GAN gene mutations on chromosome 16q24.1. AIMS To search for GAN gene mutations in Turkish patients with GAN and characterise the phenotype associated with t...
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