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- Barvinska, O.; Olkhovych, N.; Gorovenko, N.
- Cytology and genetics 2018 v.52 no.3 pp. 198-203
- genetic analysis, etc ; 3-hydroxyacyl-CoA dehydrogenase; alleles; amino acids; beta oxidation; biomarkers; fatty acids; genetic disorders; mutation; patients; probability; screening; signs and symptoms (animals and humans); Ukraine; Show all 14 Subjects
- ... During 2011–2016, selective screening of hereditary disorders of amino acid and acylcarnitines metabolism identified six patients with a set of clinical symptoms and biochemical markers, which indicated a high probability of one of the two hereditary disorders of fatty acids β-oxidation associated with complete deficiency of trifunctional protein (TFP) or isolated deficiency of long chain 3-hydrox ...