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

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

URL الوصول: https://doaj.org/article/172aeb75c94342c59411f163b00e629a

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abaa998e5aee09f205b39feb5e14e51
https://pubmed.ncbi.nlm.nih.gov/34088690

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 1-2

مصطلحات 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

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. Springer

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e7ac9540d12485a58d97a7964b25e3e
https://doaj.org/article/b8646ce29b08414b95415f29487e97a8

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

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 Wilkins

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37dd47a5aaff6b00735d1f908cb3b8e
https://doi.org/10.1038/s41436-020-00942-9

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76346d1f23419ae98d91ae5a8bd0dfa2
https://doi.org/10.1002/jcb.27097

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::591f537570536fb93cf82a0154e33e0e
https://doi.org/10.2147/ijgm.s180706

المؤلفون: Timson, David J.^Aff1_669, Reece, Richard J.^Aff2_669, Thoden, James B.^Aff3_669, Holden, Hazel M.^Aff3_669

المساهمون: Lang, Florian, editor^Aff1

المصدر: Encyclopedia of Molecular Mechanisms of Disease. :679-680

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa03db551228d07620daedd2478c18ea
https://pubmed.ncbi.nlm.nih.gov/33181226