المؤلفون: Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Classic galactosemia, Inherited metabolic disorder, Galactose metabolism, Arginine, Amino acid supplementation, Chemical chaperones, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0954-8; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/14f787f239734944a06747ee7ac1581c

المؤلفون: Britt Delnoy, Minela Haskovic, Jo Vanoevelen, Laura K. M. Steinbusch, Esther Naomi Vos, Kèvin Knoops, Luc J. I. Zimmermann, Marek Noga, Dirk J. Lefeber, Paolo G. V. Martini, Ana I. Coelho, Maria Estela Rubio‐Gozalbo

المساهمون: Kindergeneeskunde, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica, MUMC+: DA KG Lab Specialisten (9), RS: M4I - Nanoscopy, Institute of Nanoscopy (IoN), Microscopy CORE Lab, MUMC+: MA Niet Med Staf Onderz Beh Kindergeneeskunde (9), MUMC+: MA Medische Staf Kindergeneeskunde (9)

المصدر: Journal of Inherited Metabolic Disease, 45, 748-758
Journal of Inherited Metabolic Disease, 45(4), 748-758. Wiley
Journal of Inherited Metabolic Disease, 45, 4, pp. 748-758

مصطلحات موضوعية: Galactosemias, therapy, mRNA, Infant, Newborn, Galactose, classic galactosemia, lipid nanoparticles, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], zebrafish, Nucleotidyltransferases, GENE, VASCULAR LIPID-ACCUMULATION, DELIVERY, Liposomes, Genetics, NANOPARTICLES, Animals, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, GALT, Female, RNA, Messenger, URIDYLYLTRANSFERASE, MUTATION, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e2f4c19e9e2710f907c35fdb0be565
http://hdl.handle.net/2066/282590

المؤلفون: Jo Vanoevelen, Ana I. Coelho, M. Estela Rubio-Gozalbo, Jörgen Bierau, Laura K.M. Steinbusch, Minela Haskovic, Gerard T. Berry, Eduardo Villamor-Martinez, Luc J. I. Zimmermann

المصدر: Journal of Inherited Metabolic Disease

مصطلحات موضوعية: Galactosemias, Genotype, DROSOPHILA-MELANOGASTER MODEL, Review Article, Disease, treatment targets, CULTURED SKIN FIBROBLASTS, Bioinformatics, DEFECTIVE GALACTOSYLATION, Galactokinase, UDPglucose 4-Epimerase, 03 medical and health sciences, chemistry.chemical_compound, PI3K/AKT SIGNALING PATHWAY, Genetics, medicine, Animals, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, Review Articles, SUGAR NUCLEOTIDE LEVELS, pathophysiology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, hereditary galactosemia, UNFOLDED PROTEIN RESPONSE, business.industry, 030305 genetics & heredity, Galactosemia, Galactose, CLASSIC GALACTOSEMIA, MOUSE MODEL, medicine.disease, Phenotype, animal models, Disease Models, Animal, Oxidative Stress, Uridine diphosphate, chemistry, Unfolded protein response, PHOSPHATE URIDYLYLTRANSFERASE GALT, Animal studies, cellular models, business, Uridine diphosphate galactose, URIDINE-DIPHOSPHATE GALACTOSE

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d060f71ece9a8c03af6cc2a505a6526
https://doi.org/10.1002/jimd.12202

المؤلفون: Jörgen Bierau, Martijn Lindhout, M. Estela Rubio-Gozalbo, Fokje Zijlstra, Ana I. Coelho, Minela Haskovic, Raisa Veizaj, Dirk Lefeber, Rein Vos, Jo Vanoevelen

المساهمون: Kindergeneeskunde, RS: GROW - R4 - Reproductive and Perinatal Medicine, RS: CAPHRI other, FHML Methodologie & Statistiek, MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica, MUMC+: MA Medische Staf Kindergeneeskunde (9)

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43, 994-1001
Journal of Inherited Metabolic Disease, 43(5), 994-1001. Wiley
Journal of Inherited Metabolic Disease, 43, 5, pp. 994-1001

مصطلحات موضوعية: Galactosemias, Male, GALT deficiency, UDPglucose-Hexose-1-Phosphate Uridylyltransferase, Danio, Biology, Nucleotide sugar, 03 medical and health sciences, chemistry.chemical_compound, Tandem Mass Spectrometry, nucleotide sugars, Genetics, medicine, sugar metabolism, GALT, Animals, UTP-Hexose-1-Phosphate Uridylyltransferase, Zebrafish, Genetics (clinical), pathophysiology, 030304 developmental biology, galactosemia, 0303 health sciences, 030305 genetics & heredity, Galactosemia, Wild type, Galactose, Original Articles, POLY(ADP-RIBOSE), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, biology.organism_classification, zebrafish, Cell biology, Leloir pathway, carbohydrates (lipids), Uridine diphosphate, Kinetics, chemistry, DEFICIT, Female, Original Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e333426a335f90efa435815f147e06
https://hdl.handle.net/2066/225900

المؤلفون: Susan Feenstra, Susan E. Waisbren, Wanshu Qi, Gerard T. Berry, Leah Hecht, Vikram Daesety, Minela Haskovic, Didem Demirbas, Xiaoping Huang, Harvey L. Levy, Cynthia S. Gubbels

المصدر: Molecular genetics and metabolism. 126(4)

مصطلحات موضوعية: 0301 basic medicine, Male, Erythrocytes, Endocrinology, Diabetes and Metabolism, 030105 genetics & heredity, Biochemistry, 0302 clinical medicine, Endocrinology, Tandem Mass Spectrometry, Genotype, Child, chemistry.chemical_classification, biology, Galactosemia, Genetic disorder, Middle Aged, Phenotype, Child, Preschool, Female, medicine.symptom, Adult, Galactosemias, medicine.medical_specialty, Ataxia, Adolescent, Carbohydrate metabolism, Sensitivity and Specificity, 03 medical and health sciences, Young Adult, Hypergonadotropic hypogonadism, Internal medicine, Genetics, medicine, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, Molecular Biology, Aged, Enzyme Assays, Retrospective Studies, business.industry, Galactose, Infant, medicine.disease, Enzyme assay, Enzyme, chemistry, biology.protein, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d098ba1a3024ccb0ef0b5575275bbd
https://pubmed.ncbi.nlm.nih.gov/30718057

المؤلفون: M. Estela Rubio-Gozalbo, Minela Haskovic, S. H. Benneheij, W. J. Poot, Esmee Oussoren, G. de Wert, Anja Krumeich, R. van Golde

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), RS: CAPHRI - R6 - Promoting Health & Personalised Care, Metamedica, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), Obstetrics & Gynecology, Pediatrics

المصدر: Journal of Inherited Metabolic Disease, 41(5), 791-797. Wiley
Journal of Inherited Metabolic Disease, 41(5), 791-797. Springer Netherlands
Journal of Inherited Metabolic Disease

مصطلحات موضوعية: Galactosemias, 0301 basic medicine, medicine.medical_specialty, media_common.quotation_subject, Primary ovarian insufficiency, Mothers, Fertility, Primary Ovarian Insufficiency, Nuclear Family, Interviews as Topic, 03 medical and health sciences, 0302 clinical medicine, AGE, CHILD, Cognitive level, Female patient, Genetics, medicine, Humans, FERTILITY, ATTITUDES, Qualitative Research, Genetics (clinical), Netherlands, media_common, 030219 obstetrics & reproductive medicine, Oocyte Donation, Galactosemia, Fertility Preservation, Cognition, medicine.disease, EXPERIENCES, MOTHER, 030104 developmental biology, Infertility, Oocyte donation, Family medicine, Female, Original Article, Psychology, GONADAL-FUNCTION, Qualitative research

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4215deb59b4e2ce5e81a2eda90a5d873
https://cris.maastrichtuniversity.nl/en/publications/dc9eaaba-1a1a-451f-9be0-5d3eb6742d32