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

URL الوصول: https://doaj.org/article/f23c3d6f47a346f9ae16e38c9f4894bc

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)

المؤلفون: Mengel, Eugen^Aff1, Bembi, Bruno, del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Héron, Bénédicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Symonds, Tara, Hudgens, Stacie, Patterson, Marc C., Guldberg, Christina, Ingemann, Linda, Petersen, Nikolaj H. T., Kirkegaard, Thomas, í Dali, Christine

المصدر: Orphanet Journal of Rare Diseases. 15(1)

المؤلفون: Tara Symonds, Lucy Lloyd-Price, Christina Guldberg, Michael Chladek, Christine íDali, Marc C. Patterson, Claire Burbridge, Helen Doll, Eugen Mengel

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: medicine.medical_specialty, Arimoclomol, Psychometrics, lcsh:Medicine, Disease, Surveys and Questionnaires, Validation, Content validity, Criterion validity, Medicine, Humans, Pharmacology (medical), Disabled Persons, Genetics (clinical), business.industry, Research, lcsh:R, Construct validity, Reproducibility of Results, Cognition, Niemann-Pick Disease, Type C, General Medicine, Clinical trial, Convergent validity, Niemann-pick type C clinical severity scale, NPCCSS, Physical therapy, Age of onset, ClinRO, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::304a9e42e6f4bc6029b29d7b73c47337
https://doaj.org/article/f23c3d6f47a346f9ae16e38c9f4894bc

المؤلفون: Mireia del Toro, Thomas Kirkegaard, Stacie Hudgens, Stephanie Grunewald, Bénédicte Héron, Tara Symonds, Christina Guldberg, Saikat Santra, Esther M. Maier, Matthias Gautschi, Federica Deodato, Simon Day, Sabine Grønborg, Bruno Bembi, Marc C. Patterson, Eugen Mengel, Nikolaj H.T. Petersen, Anna Tylki-Szymańska, Linda Ingemann, Christine í Dali, Agathe Roubertie

المصدر: Orphanet Journal of Rare Diseases
Mengel, Eugen; Bembi, Bruno; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Héron, Bénédicte; Maier, Esther M; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H T; Kirkegaard, Thomas; ... (2020). Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study. Orphanet journal of rare diseases, 15(1), p. 328. BioMed Central 10.1186/s13023-020-01616-0 <http://dx.doi.org/10.1186/s13023-020-01616-0>

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Intraclass correlation, Population, Lysosomal storage disease, 610 Medicine & health, Gastroenterology, Natural history of disease, 03 medical and health sciences, 0302 clinical medicine, Observational study, Internal medicine, Miglustat, medicine, Humans, Pharmacology (medical), Prospective Studies, Prospective cohort study, education, Genetics (clinical), Cholestane-triol, education.field_of_study, Niemann–Pick disease, type C, Heat shock protein, medicine.diagnostic_test, business.industry, Research, NPC Clinical Severity Scale (NPCCSS), Reproducibility of Results, Correction, Neurodegenerative Diseases, Niemann-Pick Disease, Type C, General Medicine, Reliability, medicine.disease, Niemann–Pick type C (NPC) disease, 030104 developmental biology, Skin biopsy, Disease Progression, Leukocytes, Mononuclear, Biomarker (medicine), business, 030217 neurology & neurosurgery, Biomarkers, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e74230f87361cc9e00e6f0dcb3fa3b5