-
1
المؤلفون: Dardis, A, Michelakakis, H, Rozenfeld, P, Fumic, K, Wagner, J, Pavan, E, Fuller, M, Revel-Vilk, S, Hughes, D, Cox, T, Aerts, J, International Working Group Of Gaucher Disease (IWGGD)
المساهمون: Dardis, A [0000-0001-7024-8181], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Genetic testing, Gaucher Disease, Clinical Laboratory Techniques, Patient-Centered Care, Lysosomal storage diseases, Humans, Glucosylceramidase, Review, Enzyme activity, Glucosylceramides, Biomarkers
وصف الملف: application/pdf; text/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d183ae2eb5bf17269041c88a4fc54f2fTest
https://www.repository.cam.ac.uk/handle/1810/345622Test -
2
المؤلفون: P. K. Mistry, P. Kishnani, C. Wanner, D. Dong, J. Bender, J. L. Batista, J. Foster
المصدر: Orphanet Journal of Rare Diseases. 17
مصطلحات موضوعية: Lysosomal Storage Diseases, Rare Diseases, Infant, Newborn, Quality of Life, Humans, Pharmacology (medical), Registries, General Medicine, Lysosomes, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65f916f048c3cddce3f9f79f1da489c1Test
https://doi.org/10.1186/s13023-022-02517-0Test -
3
المؤلفون: F. Eichler, Caroline Sevin, M. Barth, F. Pang, K. Howie, M. Walz, A. Wilds, C. Calcagni, C. Chanson, L. Campbell
المصدر: Orphanet Journal of Rare Diseases. 17
مصطلحات موضوعية: Lysosomal Storage Diseases, Caregivers, Disease Progression, Humans, Pharmacology (medical), Leukodystrophy, Metachromatic, General Medicine, Child, Cerebroside-Sulfatase, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5952e2e548bf95eadc0b3a1fc496c217Test
https://doi.org/10.1186/s13023-022-02518-zTest -
4
المؤلفون: Donald, Aimee, Björkvall, Cecilia Kämpe, Vellodi, Ashok, GAUCHERITE Consortium, Cox, Timothy M, Hughes, Derralyn, Jones, Simon A, Wynn, Robert, Machaczka, Maciej
المساهمون: Donald, Aimee [0000-0002-2623-5233], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Gaucher Disease, BMT, Research, Hematopoietic Stem Cell Transplantation, Outcomes, Type 3 Gaucher disease, Neurology, Lysosomal storage diseases, HSCT, Glucosylceramidase, Humans, Enzyme Replacement Therapy, Nervous System Diseases, Neuronopathic Gaucher disease, Retrospective Studies
وصف الملف: application/pdf; text/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::742674db959cb4325426cdd4728d1eeaTest
-
5Label-free multiplex electrochemical immunosensor for early diagnosis of lysosomal storage disorders
المؤلفون: Haya, Abdulkarim, Mohamed, Siaj
المصدر: Scientific Reports. 12
مصطلحات موضوعية: Immunoassay, Lysosomal Storage Diseases, Early Diagnosis, Multidisciplinary, Limit of Detection, Humans, Metal Nanoparticles, Biosensing Techniques, Electrochemical Techniques, Gold, Lysosomes, Galactosylceramidase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19baa9351cefdd91c38d66df6427b5c2Test
https://doi.org/10.1038/s41598-022-13259-1Test -
6
المصدر: Molecular Biology Reports. 48:363-370
مصطلحات موضوعية: Male, 0301 basic medicine, Cell type, Mucopolysaccharidosis I, Mucopolysaccharidosis, Mice, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Lysosome, Genetics, medicine, Lysosomal storage disease, Animals, Humans, Molecular Biology, Glycosaminoglycans, Sertoli Cells, Chemistry, Leydig Cells, General Medicine, Interstitial Cells of Cajal, Sertoli cell, medicine.disease, Epididymis, Spermatozoa, Cell biology, Lysosomal Storage Diseases, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Mutation, Disease Progression, Spermatogenesis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e812b0ec90c5b71781bc779b3cb2f8bTest
https://doi.org/10.1007/s11033-020-06055-5Test -
7
المؤلفون: Dios García Díaz, Juan de, López Rodríguez, Mónica, Morales Conejo, Montserrat, Riera Mestre, Antoni, Minority Diseases Working Group From The Spanish Society Of Internal Medicine
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Dipòsit Digital de la UB
Universidad de Barcelona
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Patient journey, Patient experience, Quality of life, Lisosomes, Health Personnel, Research, Lysosomal storage disease, General Medicine, Rare diseases, Lysosomal Storage Diseases, Spain, Qualitat de vida, Qualitative research, Humans, Medicine, Pharmacology (medical), Malalties rares, Lysosomes, Rare disease, Ecosystem, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09aa3e8bdf9b6bf0394af77b97eb9813Test
http://hdl.handle.net/2445/182738Test -
8
المؤلفون: Luis H. Reyes, Carlos Manuel Ramírez, Oscar F. Sánchez, Angela J. Espejo-Mojica, Carlos J. Alméciga-Díaz, Juan C. Cruz, Andres Felipe Leal
المصدر: Journal of Molecular Medicine. 98:931-946
مصطلحات موضوعية: Genetic enhancement, Computational biology, ENCODE, 03 medical and health sciences, 0302 clinical medicine, Genome editing, Lysosome, Drug Discovery, Animals, Humans, CRISPR, Medicine, Substrate reduction therapy, Genetics (clinical), Gene Editing, business.industry, Hematopoietic Stem Cell Transplantation, Proteins, Genetic Therapy, Enzyme replacement therapy, Human genetics, Lysosomal Storage Diseases, medicine.anatomical_structure, Molecular Medicine, Lysosomes, business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f0642a8ede4d6c4360edce408e4a91Test
https://doi.org/10.1007/s00109-020-01935-6Test -
9
المؤلفون: D’Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M., Cox, T. M., Platt, F. M., Banka, S., Chakrapani, A., Deegan, P. B., Geberhiwot, T., Hughes, D. A., Jones, S., Lachmann, R. H., Santra, S., Sharma, R., Vellodi, A.
المساهمون: Cox, Timothy M [0000-0002-4951-9941], Apollo - University of Cambridge Repository, Cox, Timothy M. [0000-0002-4951-9941]
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Splenectomy, Disease, Cohort Studies, Lysosomal storage diseases, medicine, Humans, Disease-modifying therapies, GAUCHERITE, Pharmacology (medical), Substrate reduction therapy, Prospective Studies, Bone pain, Genetics (clinical), Retrospective Studies, Gaucher Disease, business.industry, Research, Cohort, Genetic disorder, General Medicine, Enzyme replacement therapy, medicine.disease, Orthopedic surgery, Medicine, Glucosylceramidase, Nervous System Diseases, medicine.symptom, business
وصف الملف: application/pdf; application/zip; text/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2019fd6ca96eb1cda8c25a96cb5b49dTest
https://doi.org/10.1186/s13023-021-02034-6Test -
10
المؤلفون: Hiromitsu Toyoda, Hiroaki Nakamura, Hidetomi Terai, Koji Tamai, Shinji Takahashi, Akinobu Suzuki, Masatoshi Hoshino, Yusuke Hori, Akito Yabu
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, medicine.medical_specialty, Visual analogue scale, Myelopathy, medicine.medical_treatment, Spinal Cord Diseases, Laminoplasty, Mucolipidoses, Lysosome storage diseases, Humans, Medicine, Posterior longitudinal ligament, Pharmacology (medical), Genetics (clinical), Retrospective Studies, business.industry, Research, Laminectomy, Retrospective cohort study, General Medicine, Mucopolysaccharidoses, medicine.disease, Surgery, Lysosomal Storage Diseases, Treatment Outcome, Atlantoaxial instability, Orthopedic surgery, Cervical Vertebrae, Cervical, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22a04a0f935bc36f8d6cda48e5f4d840Test
https://doi.org/10.1186/s13023-021-02031-9Test
