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1دورية أكاديمية
المؤلفون: Mengel, Eugen, Patterson, Marc C, Da Riol, Rosalia M, Del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Harmatz, Paul, Héron, Bénédicte, Maier, Esther M, Roubertie, Agathe, Santra, Saikat, Tylki‐Szymanska, Anna, Day, Simon, Andreasen, Anne Katrine, Geist, Marie Aavang, Petersen, Nikolaj Havnsøe Torp, Ingemann, Linda, Hansen, Thomas, Blaettler, Thomas, Kirkegaard, Thomas, Dali, Christine
المصدر: Journal of Inherited Metabolic Disease. 44(6)
مصطلحات موضوعية: Clinical Research, Clinical Trials and Supportive Activities, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adolescent, Child, Child, Preschool, Disease Progression, Double-Blind Method, Female, Humans, Hydroxylamines, Internationality, Male, Niemann-Pick Disease, Type C, Prospective Studies, Severity of Illness Index, Treatment Outcome, Young Adult, arimoclomol, biomarker, double-blindplacebo-controlled, heat shock protein, Niemann-Pick disease type C, NPC clinical severity scale, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/2zk0w272
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2دورية أكاديمية
المؤلفون: Sitarska, DominikaAff1, Tylki-Szymańska, Anna, Ługowska, AgnieszkaAff1
المصدر: Metabolic Brain Disease. 36(8):2215-2221
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3دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
4دورية أكاديمية
المؤلفون: Marc C. Patterson, Lucy Lloyd-Price, Christina Guldberg, Helen Doll, Claire Burbridge, Michael Chladek, Christine íDali, Eugen Mengel, Tara Symonds
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Niemann-pick type C clinical severity scale, NPCCSS, ClinRO, Validation, Arimoclomol, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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5دورية أكاديمية
المؤلفون: Patterson, Marc C.Aff1, Lloyd-Price, Lucy, Guldberg, Christina, Doll, Helen, Burbridge, Claire, Chladek, Michael, íDali, Christine, Mengel, Eugen, Symonds, Tara
المصدر: Orphanet Journal of Rare Diseases. 16(1)
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6دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
7دورية أكاديمية
المؤلفون: Kuta, Rachel, Larochelle, Nancy, Fernandez, Mario, Pal, Arun, Minotti, Sandra, Tibshirani, Michael, St. Louis, Kyle, Gentil, Benoit J., Nalbantoglu, Josephine N., Hermann, Andreas, Durham, Heather D.Aff1
المصدر: Cell Stress and Chaperones: An Integrative Journal of Stress Biology, Medicine and the Environment. 25(1):173-191
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8دورية أكاديمية
المؤلفون: Kushlaf, HaniAff1
المصدر: Current Treatment Options in Neurology. 23(8)
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9دورية أكاديمية
المؤلفون: Anne-Katrin Guettsches, Nancy Meyer, René P. Zahedi, Teresinha Evangelista, Thomas Muentefering, Tobias Ruck, Emmanuelle Lacene, Christoph Heute, Humberto Gonczarowska-Jorge, Benedikt Schoser, Sabine Krause, Andreas Hentschel, Matthias Vorgerd, Andreas Roos
المصدر: Biomedicines, Vol 10, Iss 10, p 2443 (2022)
مصطلحات موضوعية: valosin–containing protein (VCP), inclusion body myopathy with frontotemporal dementia and Paget’s disease of the bone (IBMPFD), fibroblast proteomics, arimoclomol, autophagy, FYCO1, Biology (General), QH301-705.5
وصف الملف: electronic resource
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10
المؤلفون: Anna Tylki-Szymańska, Agnieszka Ługowska, Dominika Sitarska
المصدر: Metabolic Brain Disease
مصطلحات موضوعية: medicine.medical_specialty, Arimoclomol, Neurology, Endosome, Genetic enhancement, Review Article, Endosomes, Disease, Bioinformatics, Biochemistry, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Niemann-Pick C1 Protein, hemic and lymphatic diseases, Miglustat, medicine, Animals, Humans, Vorinostat, business.industry, HP-β-CD, nutritional and metabolic diseases, Niemann-Pick Disease, Type C, Niemann-Pick Type C disease, Gene Therapy, Cholesterol, chemistry, Therapy, Neurology (clinical), Animal studies, NPC1, NPC, Lysosomes, business, medicine.drug