Registration Number
0218U006749,
0115U000235
, R & D reports
Title
The mark of the performance assessment of the definition of phenotypic and genotypic correlations in specifying the diagnosis of hereditary neuropsychiatric disorders
popup.stage_title
Head
Grechanina Elena Ya,
Registration Date
02-08-2018
Organization
3.Kharkov national medical university
popup.description2
The algorithm of clinical and molecular genetic examination of patients with spinal muscular atrophy, and hereditary neuropathies motosensorni, defining gene sequence analysis SMNI, PMP22, GJB1, MPZ, GDAP1 and frequent mutations of genes responsible for various forms of the disease, which is based on differences in the incidence of different options, spinal muscular atrophy and hereditary neuropathies motosensornyh, age of onset, types of inheritance, speed indicators on the median nerve and the clinical manifestations and course of the disease, can significantly reduce the economic and time costs during the diagnosis of various forms of hereditary pathology of the nervous system. Developing an algorithm screening patients with autism makes it possible to diagnose hereditary and congenital pathology, to tailor effective therapy. The highest percentage in the spectrum of pathological changes in patients with autism take metabolic correction which improves the clinical course of the disease. Early diagnosis nosology pathology in patients with autism allows you to calculate the risk for offspring of parents, to preconception preparation and, if necessary, and appropriate prenatal diagnosis
Product Description
popup.authors
Бугайова О.О.
Гречаніна Ю.Б.
Здибська О.Ю.
Молодан Л.В.
popup.nrat_date
2020-04-02
