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http://hdl.handle.net/20.500.12323/5976Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Aghayeva, S.A. | - |
| dc.contributor.author | Huseynova, L.S. | - |
| dc.contributor.author | Kichibekov, B.R. | - |
| dc.contributor.author | Aliyeva, K.A. | - |
| dc.contributor.author | Khalilov, R.I. | - |
| dc.date.accessioned | 2022-09-16T07:34:08Z | - |
| dc.date.available | 2022-09-16T07:34:08Z | - |
| dc.date.issued | 2018 | - |
| dc.identifier.citation | Deutscher Wissenschaftsherold. German Science Herald | en_US |
| dc.identifier.uri | http://hdl.handle.net/20.500.12323/5976 | - |
| dc.description.abstract | The family with identified inherited metabolic disease of phenylketonuria lives in Masally administrative area. Masally area itself is located in South-East of Azerbaijan Republic on the slopes of Talysh mountains in subtropical zone. Members of proband’s family possess deficiency of glucose-6- phosphatedehydrogenase. Phenylketonuria gene has an identified R261G (G-A) mutation. The study of erythrocyte enzyme preparation for family members have shown low electophoretic mobility for G6PD which was unknown in the world studies. Based on the Michaelis-Menten constant (Km) applied to G6P, substrate values have manifested high biochemical polymorphism. | en_US |
| dc.language.iso | en | en_US |
| dc.relation.ispartofseries | ;№ 2 | - |
| dc.subject | phenylketonuria | en_US |
| dc.subject | polymerase chain reaction | en_US |
| dc.subject | glucose-6-phospatedehydrogenase enzyme | en_US |
| dc.subject | biochemical polymorphism | en_US |
| dc.subject | enzyme preparation | en_US |
| dc.subject | abnormal variant | en_US |
| dc.subject | mutation | en_US |
| dc.title | Inherited Metabolic Disease Phenylketonuria and Deficiency of G6pd Enzyme In A Family Study | en_US |
| dc.type | Article | en_US |
| Appears in Collections: | Publication | |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Inherited Metabolic Disease Phenylketonuria and Deficiency of G6pd Enzyme In A Family Study.pdf | 568.85 kB | Adobe PDF | View/Open |
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