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pro vyhledávání: '"Thodi, G."'
Akademický článek
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A fully automated liquid chromatography-tandem mass spectrometry (LC–MS/MS) method was developed for the determination of omeprazole in human plasma. Utilization of 96-well plates and robotic liquid handling workstations, rendered the whole procedu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::edbd6777d4574e25925042bbdba201b7
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3026266
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3026266
Classical galactosaemia is an inborn error of metabolism due to the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). The aim of the study was to identify the underlying mutations in Greek patients with GALT deficiency and ev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::f6f09093274e9cdbe6b356190030d2a4
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3086743
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3086743
Background: Deficiencies of galactokinase (GALK) and UDP-epimerase (GALE) are implicated with galactose metabolic disorders. The aim of the study was the identification of mutations in GALK and GALE genes and clinical evaluation of patients. Methods:
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::bb056bcd75432eb8b1825589ba02ad5b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3086908
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3086908
Akademický článek
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Background: Hawkinsinuria is a rare inborn error of tyrosine metabolism. Objectives: To study novel hawkinsinuria cases by monitoring their biochemical profile and conducting a mutation analysis. Subjects and methods: Among 92,519 newborns that under
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::22b02602b6099557721c82658c6426f6
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3086850
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3086850
A 23-mutation panel for CFTR carrier screening is recommended to women of reproductive age by the American College of Obstetricians and Gynecologists. In the present study the optimized efficiency regarding the carrier rate of Next-Generation sequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::ddeb078b1bb619a02620e2f8dc7eede0
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088395
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088395