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1دورية أكاديمية
المؤلفون: Giugliani, Roberto, Guelbert, Norberto, Hennermann, Julia, Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth, Yarramaneni, Abhimanyu, Armstrong, Nicole, Kim, Yong, Kumar, Monica, Wasserstein, Melissa, Lachmann, Robin, Hollak, Carla, Barbato, Antonio, Gallagher, Renata
المصدر: Orphanet Journal of Rare Diseases. 18(1)
مصطلحات موضوعية: Acid sphingomyelinase deficiency, Dose escalation, Lung diffusing capacity, Niemann–Pick type A/B, Niemann–Pick type B, Organomegaly, Recombinant human acid sphingomyelinase, Adult, Humans, Sphingomyelin Phosphodiesterase, Niemann-Pick Disease, Type A, Niemann-Pick Diseases, Recombinant Proteins
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3tx7861mTest
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2دورية أكاديمية
المؤلفون: Gomez-Mariano, Gema Maria, Perez-Luz, Sara, Ramos-Del Saz, Sheila, Matamala, Nerea, Hernandez-Sanmiguel, Esther, Fernandez-Prieto, Marta, Gil-Martín, Sara, Justo, Iago, Marcacuzco, Alberto, Martinez-Delgado, Beatriz
المساهمون: Instituto de Salud Carlos III
مصطلحات موضوعية: Acid sphignoimylinase deficiency (ASMD), Niemann-Pick type B, Organoids, Liver, Lipids, Lysosome, SMPD1 gene, Niemann-Pick Disease, Type A, Niemann-Pick Diseases, Humans, Sphingomyelins, Gene Expression
العلاقة: https://doi.org/10.3390/ijms241612645Test; info:fis/Instituto de Salud Carlos III/Programa Estatal de Generación de Conocimiento y Fortalecimiento del Sistema Español de I+D+I/Subprograma Estatal de Generación de Conocimiento/PI20-ISCIII Modalidad Proyectos de Investigacion en Salud Intramurales. (2020)/PI20CIII/00015; info:eu-repo/grantAgreement/ES/PT20CIII/00009; Int J Mol Sci. 2023 Aug 10;24(16):12645.; http://hdl.handle.net/20.500.12105/16371Test; International journal of molecular sciences
الإتاحة: https://doi.org/20.500.12105/16371Test
https://doi.org/10.3390/ijms241612645Test
https://hdl.handle.net/20.500.12105/16371Test -
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المؤلفون: Melissa Wasserstein, Robin Lachmann, Carla Hollak, Laila Arash-Kaps, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Eubekir Senates, Michel Tchan, Jesus Villarrubia, Yixin Chen, Sandy Furey, Beth L. Thurberg, Atef Zaher, Monica Kumar
المساهمون: Endocrinology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Genetics in medicine, 24(7), 1425-1436. Lippincott Williams and Wilkins
مصطلحات موضوعية: Adult, Carbon Monoxide, Diffusing capacity of the lung for carbon monoxide, Niemann-Pick type A/B, Niemann-Pick type B, Organomegaly, Recombinant human acid sphingo-myelinase, Niemann-Pick Disease, Type A, Recombinant Proteins, Sphingomyelin Phosphodiesterase, Double-Blind Method, Splenomegaly, Humans, Enzyme Replacement Therapy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8858e3c2face69ffd5efd4e9c4736a6Test
https://doi.org/10.1016/j.gim.2022.03.021Test -
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المؤلفون: George A. Diaz, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar
مصطلحات موضوعية: Niemann-Pick Diseases, Acid sphingomyelinase deficiency, Adolescent, Dose escalation, Niemann–Pick type B, General Medicine, Niemann-Pick Disease, Type A, Lipids, Lung diffusing capacity, Organomegaly, Sphingomyelin Phosphodiesterase, Humans, Pharmacology (medical), Enzyme Replacement Therapy, Recombinant human acid sphingomyelinase, Child, Genetics (clinical)
وصف الملف: Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffef8271180727dddcd9c0847fbc9620Test
https://hdl.handle.net/11577/3486191Test -
5دورية أكاديمية
المؤلفون: Voinea, C., Gonzalez Rodriguez, E., Beigelman-Aubry, C., Leroy, V., Aubry-Rozier, B., Campos-Xavier, B., Ballhausen, D., Lazor, R., Barbey, F., Bonafé, L., Superti-Furga, A., Tran, C.
المصدر: Journal of bone and mineral metabolism, vol. 37, no. 2, pp. 378-383
مصطلحات موضوعية: Bone Marrow/pathology, Bone and Bones/pathology, Frontotemporal Dementia/complications, Hepatomegaly/complications, Humans, Male, Middle Aged, Niemann-Pick Disease, Type B/complications, Type B/diagnostic imaging, Osteitis Deformans/complications, Osteitis Deformans/diagnostic imaging, Sequestosome-1 Protein/genetics, Splenomegaly/complications, Tomography, X-Ray Computed, Acid sphingomyelinase, Interstitial pulmonary disease, Lysosomal storage disease, Niemann–Pick type B, Paget’s disease of bone
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29948344; info:eu-repo/semantics/altIdentifier/eissn/1435-5604; https://serval.unil.ch/notice/serval:BIB_11FF7C377058Test; urn:issn:0914-8779
الإتاحة: https://doi.org/10.1007/s00774-018-0932-1Test
https://serval.unil.ch/notice/serval:BIB_11FF7C377058Test -
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المؤلفون: Carlo Dionisi-Vici, Sara Boenzi, Cristiano Rizzo, Bianca Maria Goffredo, Federica Deodato, Roberta Taurisano
المصدر: Journal of Lipid Research, Vol 57, Iss 3, Pp 361-367 (2016)
مصطلحات موضوعية: Niemann-Pick type B disease, 0301 basic medicine, Adult, Male, medicine.medical_specialty, Ketocholesterols, Niemann-Pick type C disease, Oxysterol, Adolescent, QD415-436, Familial hypercholesterolemia, medicine.disease_cause, Biochemistry, Filipin, acid lipase deficiency, Smith-Lemli-Opitz syndrome, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, 0302 clinical medicine, Endocrinology, congenital familial hypercholesterolemia, Internal medicine, medicine, polycyclic compounds, Humans, Child, Research Articles, Cholesterol, Infant, Newborn, Infant, Cell Biology, medicine.disease, 030104 developmental biology, chemistry, Smith–Lemli–Opitz syndrome, Child, Preschool, oxysterols, lipids (amino acids, peptides, and proteins), Female, Sitosterolemia, 030217 neurology & neurosurgery, Oxidative stress, Cholestanols, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e22b36b6049e83e736329715280e12c9Test
https://pubmed.ncbi.nlm.nih.gov/26733147Test