Olkhovych N. Molecular genetic basis for the formation of biochemical phenotype of lysosomal storage diseases

Українська версія

Thesis for the degree of Doctor of Science (DSc)

State registration number

0517U000562

Thesis Registration Form

0517U000562.pdf

Applicant for

Specialization

  • 03.00.15 - Генетика

29-06-2017

Specialized Academic Board

Д 26.562.02

State Institution "National Research Centre For Radiation Medicine of National Academy of Medical Sciences of Ukraine"

Essay

Dissertation focuses on the role of primary and secondary genetic factors in the development of clinical and biochemical phenotype of lysosomal storage disease. The concept of the combined effect of primary etiologic and secondary modifying factors in the formation of the phenotype of LSD was formulated and on this basis a personalized approach to determining the optimal ways of LSD laboratory diagnosis and evaluation of individual biochemical phenotype features of the disease was developed.

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Files

aref.doc.doc

dis.doc.doc

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