المؤلفون: Canda E., Yazici H., Altınok Y.A., Ucar S.K., Coker M.

مصطلحات موضوعية: uridine diphosphate glucose 4 epimerase, Article, bilirubin blood level, birth weight, blood cell count, blood level, case report, cataract, child, clinical Article, consanguineous marriage, differential diagnosis, enzyme activity, aspartate aminotransferase, genetic analysis, genetic association, human, alanine aminotransferase, enzyme, galactokinase, galactose 1 phosphate uridylyltransferase, galactose mutarotase, unclassified drug, enzyme deficiency, eye examination, female, gene frequency, gene mutation, genetic screening, glucose urine level

العلاقة: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/79419Test; https://doi.org/10.1002/jmd2.12263Test; 63; 25; 28

الإتاحة: https://doi.org/10.1002/jmd2.12263Test
https://hdl.handle.net/11454/79419Test

المؤلفون: Yazici H., Canda E., Altınok Y.A., Ucar S.K., Coker M.

مصطلحات موضوعية: alanine aminotransferase, aspartate aminotransferase, enzyme, galactokinase, galactose 1 phosphate uridylyltransferase, galactose mutarotase, unclassified drug, uridine diphosphate glucose 4 epimerase, Article, bilirubin blood level, birth weight, blood cell count, blood level, case report, cataract, child, clinical article, consanguineous marriage, differential diagnosis, enzyme activity, enzyme deficiency, eye examination, female, gene frequency, gene mutation, genetic analysis, genetic association, genetic screening, glucose urine level, head circumference

العلاقة: JIMD Reports; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1002/jmd2.12263Test; https://hdl.handle.net/11454/79419Test; 63; 25; 28; 2-s2.0-85123420633

الإتاحة: https://doi.org/10.1002/jmd2.12263Test
https://hdl.handle.net/11454/79419Test

المؤلفون: Kotb MA, Mansour L, Shamma RA

المصدر: International Journal of General Medicine, Vol Volume 12, Pp 193-205 (2019)

مصطلحات موضوعية: Galactosemia neonatal screening, galactose -1- phosphate uridylyltransferase, galactokinase, UDP galactose -4- epimerase, galactosylation, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/screening-for-galactosemia-is-there-a-place-for-it-peer-reviewed-article-IJGMTest; https://doaj.org/toc/1178-7074Test

الوصول الحر: https://doaj.org/article/36bf9ed5412a479fbd426fb8ddf815b6Test

المؤلفون: Canbay, E., Topbas, M., Sezer, E., Canda, E., Kalkan, Uçar, S., Çoker, M., Yildirim, Sözmen, E.

مصطلحات موضوعية: GALT, Dried blood spot, LC-MS/MS, Newborn screening, Blood, Liquid chromatography, Mass spectrometry, Carbohydrate metabolism, Enzymes activity, LC-MS-MS, Lc.ms/ms, Liquid chromatography - mass spectrometries, Optimisations, Spot samples, Enzyme activity, acetonitrile, galactose 1 phosphate uridylyltransferase, adolescent, adult, aged, Article, child, controlled study, dried blood spot testing, female, fluorometry, human, infant, intermethod comparison, liquid chromatography-mass spectrometry

العلاقة: Analytical Biochemistry; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/91591Test; https://doi.org/10.1016/j.ab.2023.115284Test; 678

الإتاحة: https://doi.org/10.1016/j.ab.2023.115284Test
https://hdl.handle.net/11454/91591Test

المؤلفون: Yasemin Atik Altınok, Ebru Canda, Havva Yazıcı, Sema Kalkan Uçar, Mahmut Çoker

المصدر: JIMD Reports
JIMD Reports, Vol 63, Iss 1, Pp 25-28 (2022)

مصطلحات موضوعية: Sanger sequencing, genetic association, Endocrinology, Diabetes and Metabolism, consanguineous marriage, Case Report, genetic analysis, Case Reports, QH426-470, physical examination, blood level, preschool child, whole exome sequencing, galactokinase, Leloir pathway, aspartate aminotransferase, differential diagnosis, gene mutation, bilirubin blood level, child, clinical article, education.field_of_study, Chemistry, genetic screening, unclassified drug, enzyme activity, female, Biochemistry, cataract, head circumference, eye examination, galactose 1 phosphate uridylyltransferase, enzyme deficiency, Galactose mutarotase, galactose mutarotase, hypermetropia, alanine aminotransferase, galactose, gene frequency, Biochemistry, Genetics and Molecular Biology (miscellaneous), Diseases of the endocrine glands. Clinical endocrinology, Article, male, Genetics, Internal Medicine, GALM, liver function test, human, education, glucose urine level, uridine diphosphate glucose 4 epimerase, birth weight, RC648-665, enzyme, blood cell count, homozygosity

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec443352d6f7d362fa4310df5fd3fcecTest
http://europepmc.org/articles/PMC8743342Test

المؤلفون: Magd A, Kotb, Lobna, Mansour, Radwa A, Shamma

المصدر: International Journal of General Medicine, Vol Volume 12, Pp 193-205 (2019)
International Journal of General Medicine

مصطلحات موضوعية: galactokinase, Galactosemia neonatal screening, lcsh:R5-920, UDP galactose -4- epimerase, UDP galactose-4-epimerase, galactosylation, galactose-1-phosphate uridylyltransferase, Review, galactose -1- phosphate uridylyltransferase, lcsh:Medicine (General), eye diseases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::72a7e2144cf59dbd68911e6bd89f7491Test
https://www.dovepress.com/screening-for-galactosemia-is-there-a-place-for-it-peer-reviewed-article-IJGMTest

المؤلفون: Uttaro, A.D., Ielpi, L., Ugalde, R.A.

مصطلحات موضوعية: arabinose, galactokinase, galactose, galactose 1 phosphate uridylyltransferase, glycan derivative, lipid, uridine diphosphate galactose, uridine diphosphate glucose 4 epimerase, aerobic metabolism, article, bacterium mutant, enzyme activity, enzyme metabolism, enzyme synthesis, nonhuman, priority journal, Rhizobium radiobacter, Agrobacterium tumefaciens, Bacteria (microorganisms), Rhizobiaceae

العلاقة: http://hdl.handle.net/20.500.12110/paper_00221287_v139_n5_p1055_UttaroTest

الإتاحة: https://doi.org/20.500.12110/paper_00221287_v139_n5_p1055_UttaroTest
https://hdl.handle.net/20.500.12110/paper_00221287_v139_n5_p1055_UttaroTest

مصطلحات موضوعية: arabinose, galactokinase, galactose, galactose 1 phosphate uridylyltransferase, glycan derivative, lipid, uridine diphosphate galactose, uridine diphosphate glucose 4 epimerase, aerobic metabolism, article, bacterium mutant, enzyme activity, enzyme metabolism, enzyme synthesis, nonhuman, priority journal, Rhizobium radiobacter, Agrobacterium tumefaciens, Bacteria (microorganisms), Rhizobiaceae

العلاقة: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00221287_v139_n5_p1055_UttaroTest; http://hdl.handle.net/20.500.12110/paper_00221287_v139_n5_p1055_UttaroTest

الإتاحة: https://doi.org/20.500.12110/paper_00221287_v139_n5_p1055_UttaroTest
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00221287_v139_n5_p1055_UttaroTest
https://hdl.handle.net/20.500.12110/paper_00221287_v139_n5_p1055_UttaroTest