المؤلفون: Linley Mangini, Roger Lawrence, Manuel E. Lopez, Timothy C. Graham, Christopher R. Bauer, Hang Nguyen, Cheng Su, John Ramphal, Brett E. Crawford, Tom A. Hartl

المصدر: JIMD Reports, Vol 65, Iss 4, Pp 280-294 (2024)

مصطلحات موضوعية: cerebroside, galactokinase 1 (GALK1), galactose‐1‐phosphate uridylyltransferase (GALT), galactosemia, galactosylceramide, myelin, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/681f476298fc43008be14cb90904e903Test

العنوان البديل: New tree species for Dresden. (English)

المؤلفون: Löbel, Steffen

المصدر: Baumzeitung; jun2024, Issue 3, p31-35, 5p

مصطلحات موضوعية: TREES, DROUGHTS, SPECIES diversity, GALACTOKINASE deficency, PLANTING

المؤلفون: Ana Šmaguc, Danijela Petković Ramadža, Vladimir Sarnavka, Vjekoslav Krželj, Bernarda Lozić, Silvija Pušeljić, Valentina Rahelić, Nikola Mesarić, Marina Grubić, Ana Bogdanić, Anita Špehar Uroić, Tamara Žigman, Ruža Grizelj, Jurica Vuković, Duško Mardešić, Ildiko Szatmari, Isabel Rivera, Ksenija Fumić, Ivo Barić

المصدر: Liječnički vjesnik, Vol 145, Iss 1-2, Pp 1-11 (2023)

مصطلحات موضوعية: galactosemias – complications, diagnosis, genetics, galactose – blood, utp-hexose-1-phosphate uridylyltransferase – deficiency, udp glucose 4-epimerase – deficiency, galactokinase – deficiency, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://lijecnicki-vjesnik.hlz.hr/pdf/1-2-2023/01_smaguc.pdfTest; https://doaj.org/toc/0024-3477Test; https://doaj.org/toc/1849-2177Test

الوصول الحر: https://doaj.org/article/172aeb75c94342c59411f163b00e629aTest

المؤلفون: Drew, D., Kim, H.

المساهمون: Kim, H.

مصطلحات موضوعية: Fluorescence, Galactokinase, Green fluorescent protein

العلاقة: Methods in molecular biology (Clifton, N.J.), Vol.866, pp.41-46; https://hdl.handle.net/10371/192932Test; 2-s2.0-84859866907; 185496

الإتاحة: https://doi.org/10.1007/978-1-61779-770-5_4Test
https://hdl.handle.net/10371/192932Test

المؤلفون: Šmaguc, Ana, Ramadža, Danijela Petković, Sarnavka, Vladimir, Krželj, Vjekoslav, Lozić, Bernarda, Pušeljić, Silvija, Rahelić, Valentina, Mesarić, Nikola, Grubić, Marina, Bogdanić, Ana, Uroić, Anita Špehar, Žigman, Tamara, Grizelj, Ruža, Vuković, Jurica, Mardešić, Duško, Szatmari, Ildiko, Rivera, Isabel, Fumić, Ksenija, Barić, Ivo

المصدر: Liječnički vjesnik ; ISSN 0024-3477 (Print) ; ISSN 1849-2177 (Online) ; Volume 145 ; Issue 1-2

مصطلحات موضوعية: Deskriptori GALAKTOZEMIJA – dijagnoza, genetika, komplikacije, GALAKTOZA – u krvi, GALAKTOZA-1-FOSFAT URIDIL TRANSFERAZA – genetika, nedostatak, URIDIN DIFOSFAT GALAKTOZA 4-EPIMERAZA – genetika, GALAKTOKINAZA – genetika, MUTACIJA, FENOTIP, NOVOROĐENAČKI PROBIR, HRVATSKA, GALACTOSEMIAS – complications, diagnosis, genetics, GALACTOSE – blood, UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE – deficiency, UDP GLUCOSE 4-EPIMERASE – deficiency, GALACTOKINASE – deficiency, MUTATION, PHENOTYPE, NEONATAL SCREENING, CROATIA

وصف الملف: application/pdf

العلاقة: https://hrcak.srce.hr/294579Test

الإتاحة: https://doi.org/10.26800/LV-145-1-2-1Test
https://hrcak.srce.hr/294579Test
https://hrcak.srce.hr/file/433204Test

المؤلفون: Forche, Anja, Cromie, Gareth, Gerstein, Aleeza C, Solis, Norma V, Pisithkul, Tippapha, Srifa, Waracharee, Jeffery, Eric, Abbey, Darren, Filler, Scott G, Dudley, Aimée M, Berman, Judith

المصدر: Genetics. 209(3)

مصطلحات موضوعية: Microbiology, Biological Sciences, Dental/Oral and Craniofacial Disease, Genetics, Human Genome, Aetiology, 2.2 Factors relating to the physical environment, Aneuploidy, Animals, Candida albicans, Candidiasis, DNA, Fungal, Fungal Proteins, Galactokinase, Gene Frequency, Genetic Variation, Genotype, Host-Pathogen Interactions, Loss of Heterozygosity, Male, Mice, Mouth, Phenotype, Sequence Analysis, DNA, aneuploidy, loss of heterozygosity, oropharyngeal candidiasis, hyper-variability, colony phenotype, Developmental Biology, Biochemistry and cell biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2ps8c8c8Test

المؤلفون: Michael Sørensen, Mette Marie Fode, Jørgen Baltzer Petersen, Marianne Ingerslev Holt, Morten Høyer

المصدر: Radiation Oncology, Vol 16, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Galactokinase, Metabolic liver function, Functional imaging, Liver cancer, Oncology, Medical physics. Medical radiology. Nuclear medicine, R895-920, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1748-717XTest

الوصول الحر: https://doaj.org/article/62c8b80aefbe4064a333bb2d2af7d5d8Test

المؤلفون: Zinsser, Veronika L.¹, Cox, Ciara¹, McAuley, Margaret¹, Hoey, Elizabeth M.¹, Trudgett, Alan¹, Timson, David J.^1,2

المصدر: Experimental Parasitology. Sep2018, Vol. 192, p65-72. 8p.

مصطلحات موضوعية: *GALACTOKINASE deficency, *FASCIOLA hepatica, *PHOSPHORYLATION, *GALACTOSE, *TREMATODA

المؤلفون: Stockwell, Sarah R, Rifkin, Scott A

المصدر: Molecular systems biology. 13(1)

مصطلحات موضوعية: Saccharomyces cerevisiae, Galactokinase, Galactose, Saccharomyces cerevisiae Proteins, Transcription Factors, Gene Expression Regulation, Fungal, Phenotype, Operon, Gene Regulatory Networks, Single-Cell Analysis, dynamics, galactose, gene expression, single‐cell, yeast, single-cell, Gene Expression Regulation, Fungal, Genetics, Biotechnology, Generic Health Relevance, Bioinformatics, Other Biological Sciences, Biochemistry and Cell Biology

الوصول الحر: https://escholarship.org/uc/item/7jb833v7Test

المؤلفون: Stroek, Kevin¹ k.stroek@amc.uva.nl, Bouva, Marelle J.² marelle.bouva@rivm.nl, Schielen, Peter C.J.I.² peter.schielen@rivm.nl, Vaz, Frédéric M.³ f.m.vaz@amc.uva.nl, Heijboer, Annemieke C.^1,4 a.c.heijboer@amc.uva.nl, de Jonge, Robert^5,6 r.jonge@amc.uva.nl, Boelen, Anita¹ a.boelen@amc.uva.nl, Bosch, Annet M.⁷ a.m.bosch@amc.uva.nl

المصدر: Molecular Genetics & Metabolism. May2018, Vol. 124 Issue 1, p50-56. 7p.

مصطلحات موضوعية: *GALACTOKINASE deficency, *NEWBORN screening, *GALACTOSE, *BLOOD testing, *SYSTEMATIC reviews, *FALSE positive error