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Classical galactosemia patients can achieve high IQ scores

Autor: Iakovou, K. Dotsikas, Y. Loukas, Y.L. Schulpis, K.H.

Very recently, it was reported that a patient with classical galactosemia and a very high intelligence quotient (IQ) score obtained a university degree. In the present study, two siblings with classical galactosemia (homozygous for Q188R mutation) re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::6e2cf52605c77c24cdcfe2b411a19ec2
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078706

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Identification of five mutations in a patient with galactose metabolic disorders

Autor: Schulpis, K.H. Thodi, G. Iakovou, K. Dotsikas, Y. Molou, E. Loukas, Y.L.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::8db8a3fcfa806666c0dd29b78839f320
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087161

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Rare cases of galactose metabolic disorders: Identification of more than two mutations per patient

Autor: Schulpis, K.H. Thodi, G. Chatzidaki, M. Iakovou, K. Molou, E. Dotsikas, Y. Loukas, Y.L.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::4896b684fbe0df9fc4ff40e47285af2b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3086989

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Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: One novel mutation and two rare cases

Autor: Schulpis, K.H. Thodi, G. Iakovou, K. Chatzidaki, M. Dotsikas, Y. Molou, E. Triantafylli, O. Loukas, Y.L.

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

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Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation

Autor: Schulpis, K.H. Thodi, G. Iakovou, K. Chatzidaki, M. Dotsikas, Y. Molou, E. Triantafylli, O. Loukas, Y.L.

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

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Akademický článek

Antiinflammatory and Analgesic Activities of Two Dicyclic Analogues of Acetaminophen and Its Regioisomer 3-Hydroxyacetanilide.

Autor: Iakovou, K.¹, Varvaresou, A.² varvaresou@hotmail.com, Bruni, G.³, Massarelli, P.³, Vavayannis, A.⁴, Kazanis, M.⁴

Publikováno v: Pharmaceutical Chemistry Journal. May2004, Vol. 38 Issue 5, p239-242. 4p. 2 Charts.

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Development and validation of a reversed-phase ion-pair liquid chromatography method for the determination of magnesium ascorbyl phosphate and melatonin in cosmetic creams

Autor: Varvaresou, A. Tsirivas, E. Iakovou, K. Gikas, E. Papathomas, Z. Vonaparti, A. Panderi, I.

A reversed-phase ion-pair high-performance liquid chromatographic method was developed and validated for the determination of magnesium ascorbyl phosphate and melatonin in cosmetic creams. The determination was performed on a BDS C 18 analytical colu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::45d4bfd13b96df0408fb599672def88b
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3007118

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Akademický článek

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