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Hepatolenticular disease

05 June 2011
Written by Gulyaeva S.E., Ovchinnikova A.A., Ovchinnikov A.V., Kablukov D.A.

  UDK: [616.831.322‑004‑056.7:616.36‑004]‑07 | Pages: 5–11 | Read full textDownload PDF 

Annotation:

The paper reviews the cited literature in an effort to overcome insufficient information awareness of doctors, describes up‑to‑date views on the molecular genetic defect of hepatolenticular degeneration, features of АТР7В‑gene mutation, mutation in its defect exons, estimates the polymor‑phism of its clinical picture and principles of early pathology diagnostics. The authors focus special attention on the issues of neuroimaging, ultrasound investigation and biopsy of liver, and laboratory indices. The study specifies modern standpoints on the disease mechanism and systematises clinical manifestations.

Links to authors:

S.E. Gulyaeva, A.A. Ovchinnikova, A.V. Ovchinnikov, D.A. Kablukov
Vladivostok State Medical University (2 Ostryakova Av. Vladivostok 690950 Russian Federation)

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