Mahsulot tavsifi

Genetic mutations cause disorders in lipid metabolism or storage system enzymes or transport proteins. The book covers general classification of lipid storage diseases, familial hypercholesterolemia, β-oxidation and ketogenesis disorders. Symptoms include hyperlipidemia, hepatosplenomegaly, and neurological symptoms. Diagnosis involves enzyme activity, lipid profile, and genetic testing. Treatment includes diet, pharmacotherapy, enzyme replacement, and experimental gene therapy.

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