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1دورية أكاديمية
المؤلفون: Lea-Sophie Berendes, Petra Schulze Westhoff, Helmut Wittkowski, Anja Seelhöfer, Georg Varga, Thorsten Marquardt, Julien H. Park
المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101038- (2024)
مصطلحات موضوعية: Heme oxygenase-1, Heme metabolism, Inflammation, Oxidative damage, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Karl Kunzelmann, Jiraporn Ousingsawat, Andre Kraus, Julien H. Park, Thorsten Marquardt, Rainer Schreiber, Björn Buchholz
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 17, p 13278 (2023)
مصطلحات موضوعية: TMEM16A, TMEM16F, anoctamin, SLC26A9, CFTR, pendrin, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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4دورية أكاديمية
المؤلفون: Julien H. Park, Thorsten Marquardt
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: glycosylation, congenital disorder of glycosylation, treatment, drug repurposing, chaperone, substrate supplementation, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Julien H. Park, Janine Reunert, Miao He, Robert G. Mealer, Maxence Noel, Yoshinao Wada, Marianne Grüneberg, Judit Horváth, Richard D. Cummings, Oliver Schwartz, Thorsten Marquardt
المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100680- (2020)
مصطلحات موضوعية: Congenital disorders of glycosylation, Fucose, Mass spectrometry, Therapy, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Simone Linden, Sabrina Klank, Erik Harms, Marianne Grüneberg, Julien H. Park, Thorsten Marquardt
المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100620- (2020)
مصطلحات موضوعية: Adherence, Cysteamine, Cystine level, Cystinosis, Metabolic monitoring, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Kristine Nolting, Julien H. Park, Laura C. Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C. Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
المصدر: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 33-40 (2017)
مصطلحات موضوعية: Glycogenosis, Congenital disorder of glycosylation (CDG), Phosphoglucomutase 1 (PGM1), Galactose, Growth retardation, Glycoprotein profile, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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8
المؤلفون: Julien H Park, Ulrika Nordström, Konstantinos Tsiakas, Isil Keskin, Christiane Elpers, Manoj Mannil, Raoul Heller, Melinda Nolan, Salam Alburaiky, Per Zetterström, Maja Hempel, Ulrike Schara-Schmidt, Saskia Biskup, Petra Steinacker, Markus Otto, Jochen Weishaupt, Andreas Hahn, René Santer, Thorsten Marquardt, Stefan L Marklund, Peter M Andersen
مصطلحات موضوعية: infantile motor neuron disease, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Neurology, Medizin, Neurosciences, spasticity, SOD1, ALS, Biological Psychiatry, oxygen toxicity, Neurovetenskaper
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503bd7fd2df67d84f154ec39b0ac77d1
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-208224 -
9
المؤلفون: Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Roman Taday, Janine Reunert, Thorsten Marquardt
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Mannose, Bioinformatics, chemistry.chemical_compound, Congenital Disorders of Glycosylation, medicine, Humans, Pharmacology (medical), Pmm2 cdg, Child, Letter to the Editor, Genetics (clinical), health care economics and organizations, Aged, Retrospective Studies, business.industry, Phosphomannomutase 2 deficiency, Treatment options, Congenital disorder of glycosylation, Galactose, General Medicine, medicine.disease, Human genetics, Clinical trial, chemistry, Phosphotransferases (Phosphomutases), Dietary Supplements, Medicine, Female, Therapy, business, PMM2
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10
المؤلفون: Thorsten Marquardt, Julien H. Park
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)مصطلحات موضوعية: Glycosylation, glycosylation, Disease, Review, QH426-470, Bioinformatics, substrate supplementation, chemistry.chemical_compound, congenital disorder of glycosylation, medicine, Genetics, chaperone, Genetics (clinical), treatment, drug repurposing, business.industry, Secondary disease, Treatment options, cofactor, medicine.disease, Drug repositioning, chemistry, Chaperone (clinical), Molecular Medicine, Identification (biology), business, Congenital disorder of glycosylation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed8ceeeac55df1e80d629afeeb2d208f
http://europepmc.org/articles/PMC8461064