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Current article provides an overview of the results of epidemiological studies of chronic inflammatory demyelinating polyneuropathy (CIDP) in Russia and abroad. It is shown that the prevalence of CIDP is different in countries, due to the use of different diagnostic cri...

<jats:p><jats:underline>The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, ...

Large number of ophthalmological problems has been found in patients with glycogenosis type II (Pompe disease, PD). Since enzyme replacement therapy (ERT) has been introduced ophthalmic examination in the routine follow-up gained a special role in infantile-onset Pompe ...

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The article is devoted to the etiology, prevalence, differential diagnosis and selection of therapy for pain in the lumbar spine. To determine the cause of lumbar pain, coordinated actions of a neurologist and an orthopedic surgeon are necessary, since chronic pain synd...

Transthyretin amyloidosis (ATTR) is a hereditary autosomal dominant disease. Its symptoms depend on polymorphisms of the transthyretin gene and include disorders of the peripheral nervous system and internal organs. One of the rarest mutations of the transthyretin gene ...

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