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1دورية أكاديمية
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
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المؤلفون: Paula Garcia, Dalila Coelho, Mónica Oliva, Catarina Cordeiro
المصدر: BMJ Case Rep
مصطلحات موضوعية: 0301 basic medicine, Galactosemias, Mutation, Missense, Case Report, 030105 genetics & heredity, Bioinformatics, Cataract, 03 medical and health sciences, Galactokinase, Cataracts, Missense mutation, Medicine, Humans, Family history, business.industry, Infant, General Medicine, medicine.disease, Galactokinase deficiency, Bilateral Cataracts, 030104 developmental biology, Congenital cataracts, Female, Differential diagnosis, business
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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
Volume 145
Issue 1-2مصطلحات موضوعية: GALACTOSEMIAS – complications, diagnosis, genetics, GALACTOSE – blood, UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE – deficiency, genetics, UDP GLUCOSE 4-EPIMERASE – deficiency, genetics, GALACTOKINASE – deficiency, genetics, MUTATION, PHENOTYPE, NEONATAL SCREENING, CROATIA, Deskriptori GALAKTOZEMIJA – dijagnoza, genetika, komplikacije, GALAKTOZA – u krvi, GALAKTOZA-1-FOSFAT URIDIL TRANSFERAZA – genetika, nedostatak, URIDIN DIFOSFAT GALAKTOZA 4-EPIMERAZA – genetika, nedostatak, GALAKTOKINAZA – genetika, nedostatak, MUTACIJA, FENOTIP, NOVOROĐENAČKI PROBIR, HRVATSKA, GALAKTOZEMIJA – dijagnoza, genetika, komplikacije
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2810e5ec76630a5348344fd768c11311
https://www.bib.irb.hr/1263470 -
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المؤلفون: Britt Derks, Didem Demirbas, David J. Timson, M. E. Rubio-Gozalbo, Gerard T. Berry, Can Ficicioglu, G Shashidhar Pai
المساهمون: Kindergeneeskunde, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: MA Medische Staf Kindergeneeskunde (9)
المصدر: JIMD Reports, Vol 59, Iss 1, Pp 104-109 (2021)
JIMD reports, 59(1), 104-109. Springerمصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, stable‐isotope labeled galactose, Carbohydrate metabolism, QH426-470, Biochemistry, Genetics and Molecular Biology (miscellaneous), Gastroenterology, Diseases of the endocrine glands. Clinical endocrinology, Cataracts, Internal medicine, Internal Medicine, medicine, in vivo galactose oxidation, Genetics, galactosemia, Breath test, medicine.diagnostic_test, business.industry, Galactosemia, medicine.disease, RC648-665, Galactokinase, Galactokinase deficiency, Pathophysiology, GALK1 deficiency, Gait abnormality, medicine.symptom, business
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5
المؤلفون: Sonia Dahal, Hem Sagar Rimal, Prasun Rajbhandari
المصدر: Birat Journal of Health Sciences. 6:1582-1584
مصطلحات موضوعية: Dilemma, Pediatrics, medicine.medical_specialty, business.industry, Metabolic disorder, medicine, General Medicine, Presentation (obstetrics), medicine.disease, business, Galactokinase deficiency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::76c1bc81870590e294097529b34f0234
https://doi.org/10.3126/bjhs.v6i2.40362 -
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المؤلفون: M. Estela Rubio-Gozalbo, Patrick Verloo, Sabine Scholl-Bürgi, U. Meyer, Ina Knerr, David Cassiman, Aurélie Empain, Dorothea Möslinger, Mariela M. De Los Santos De Pelegrin, Britt Derks, Can Ficicioglu, Matthias Gautschi, Natalia Juliá Palacios, Didem Demirbas, David J. Timson, Eileen P. Treacy, Annet M. Bosch, M. Luz Couce, Philippe Labrune, Gerard T. Berry, Isabel Rivera, Anastasia Skouma, Anibh M. Das, Saskia B. Wortmann
المساهمون: Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Genetics in Medicine
Genetics in Medicine, 23(1), 202-210. Nature Publishing Group
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; ... (2021). Galactokinase deficiency: lessons from the GalNet registry. Genetics in medicine, 23(1), pp. 202-210. Springer Nature 10.1038/s41436-020-00942-9 <http://dx.doi.org/10.1038/s41436-020-00942-9>
Genetics in medicine, 23(1), 202-210. Lippincott Williams and Wilkinsمصطلحات موضوعية: cataract, galactosemias registry, Galactosemias, Pediatrics, medicine.medical_specialty, galactokinase 1 deficiency, Population, Encephalopathy, GALK1 gene variants, VARIANT, 610 Medicine & health, Article, Galactokinase, ERYTHROCYTES, Medicine and Health Sciences, Medicine, Humans, Genetics(clinical), Registries, education, MUTATION, Genetics (clinical), education.field_of_study, Newborn screening, business.industry, Neonatal hypoglycemia, Homozygote, Infant, Newborn, neonatal complications, Childhood cataract, medicine.disease, Galactokinase deficiency, Bleeding diathesis, GALK1gene variants, Elevated transaminases, business, GALACTOSEMIA
وصف الملف: application/pdf; Print-Electronic
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المؤلفون: C. George Priya Doss, P. Sneha, Elaheh Ahmad Ebrahimi, Ramamoorthy Siva, Hatem Zayed, Sara Ahmed Ghazala, Thirumal Kumar D
المصدر: Journal of Cellular Biochemistry. 119:7585-7598
مصطلحات موضوعية: Galactosemias, 0301 basic medicine, 030103 biophysics, Protein Conformation, adenosine triphosphate, variant classification and interpretation, Mutant, Mutation, Missense, Gene mutation, Biology, galactosemia type 2, Biochemistry, Galactokinase, GALK1 gene, 03 medical and health sciences, chemistry.chemical_compound, Adenosine Triphosphate, medicine, OMIM : Online Mendelian Inheritance in Man, Humans, Missense mutation, Molecular Biology, Genetics, galactokinase deficiency, Galactosemia, molecular dynamics simulations, Cell Biology, medicine.disease, Galactokinase deficiency, Molecular Docking Simulation, 030104 developmental biology, chemistry, in silico predictions, Adenosine triphosphate, Protein Binding
وصف الملف: image/jpeg
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المؤلفون: Radwa Ahmed Shamma, Lobna Mansour, Magd A. Kotb
المصدر: International Journal of General Medicine. 12:193-205
مصطلحات موضوعية: Newborn screening, Galactose epimerase deficiency, business.industry, Liver cell, Galactosemia, Physiology, General Medicine, 030204 cardiovascular system & hematology, medicine.disease, Galactokinase, eye diseases, Galactokinase deficiency, Renal tubular acidosis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, chemistry, 030220 oncology & carcinogenesis, Galactose, medicine, business
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9كتاب إلكتروني
المؤلفون: Timson, David J.Aff1_669, Reece, Richard J.Aff2_669, Thoden, James B.Aff3_669, Holden, Hazel M.Aff3_669
المساهمون: Lang, Florian, editorAff1
المصدر: Encyclopedia of Molecular Mechanisms of Disease. :679-680
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المؤلفون: Samantha Banford, David J. Timson
المصدر: Biochimie. 183
مصطلحات موضوعية: 0301 basic medicine, Galactosemias, Anomer, Biochemistry, 03 medical and health sciences, medicine, Monosaccharide, Humans, education, Gene, chemistry.chemical_classification, education.field_of_study, 030102 biochemistry & molecular biology, Chemistry, Galactosemia, Galactose, General Medicine, medicine.disease, Galactokinase deficiency, 030104 developmental biology, Enzyme, Pyranose, Mutation, Protein Conformation, beta-Strand, Galactose mutarotase, Carbohydrate Epimerases