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

المؤلفون: Sara Boenzi, Federica Deodato, Roberta Taurisano, Bianca Maria Goffredo, Cristiano Rizzo, Carlo Dionisi-Vici

المصدر: Journal of Lipid Research, Vol 57, Iss 3, Pp 361-367 (2016)

مصطلحات موضوعية: oxysterols, Niemann-Pick type C disease, Niemann-Pick type B disease, acid lipase deficiency, Smith-Lemli-Opitz syndrome, congenital familial hypercholesterolemia, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0022227520354353Test; https://doaj.org/toc/0022-2275Test

الوصول الحر: https://doaj.org/article/d64c370e43854895a2a77613e6ae4ce6Test

المؤلفون: Wasserstein M., Lachmann R., Hollak C., Arash-Kaps L., Barbato A., Gallagher R. C., Giugliani R., Guelbert N. B., Ikezoe T., Lidove O., Mabe P., Mengel E., Scarpa M., Senates E., Tchan M., Villarrubia J., Chen Y., Furey S., Thurberg B. L., Zaher A., Kumar M.

المساهمون: Wasserstein, M., Lachmann, R., Hollak, C., Arash-Kaps, L., Barbato, A., Gallagher, R. C., Giugliani, R., Guelbert, N. B., Ikezoe, T., Lidove, O., Mabe, P., Mengel, E., Scarpa, M., Senates, E., Tchan, M., Villarrubia, J., Chen, Y., Furey, S., Thurberg, B. L., Zaher, A., Kumar, M.

مصطلحات موضوعية: Diffusing capacity of the lung for carbon monoxide, Niemann-Pick type A/B, Niemann-Pick type B, Organomegaly, Recombinant human acid sphingo-myelinase

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000827504100005; volume:24; issue:7; firstpage:1425; lastpage:1436; numberofpages:12; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11577/3486187Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131212347

الإتاحة: https://doi.org/10.1016/j.gim.2022.03.021Test
https://hdl.handle.net/11577/3486187Test

المؤلفون: Diaz G. A., Giugliani R., Guffon N., Jones S. A., Mengel E., Scarpa M., Witters P., Yarramaneni A., Li J., Armstrong N. M., Kim Y., Ortemann-Renon C., Kumar M.

المساهمون: Diaz, G. A., Giugliani, R., Guffon, N., Jones, S. A., Mengel, E., Scarpa, M., Witters, P., Yarramaneni, A., Li, J., Armstrong, N. M., Kim, Y., Ortemann-Renon, C., Kumar, M.

مصطلحات موضوعية: Acid sphingomyelinase deficiency, Dose escalation, Lung diffusing capacity, Niemann–Pick type B, Organomegaly, Recombinant human acid sphingomyelinase

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36517856; info:eu-repo/semantics/altIdentifier/wos/WOS:000899222100001; volume:17; issue:1; firstpage:437; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11577/3486191Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144266425

الإتاحة: https://doi.org/10.1186/s13023-022-02587-0Test
https://hdl.handle.net/11577/3486191Test

المؤلفون: Sechi A., Vit A., Avellini C., Dardis A., Pellegrin A., Scarpa M., Bembi B.

المساهمون: Sechi, A., Vit, A., Avellini, C., Dardis, A., Pellegrin, A., Scarpa, M., Bembi, B.

مصطلحات موضوعية: ASMD, Foamy macrophages aggregate, Focal hepatic lesion, Niemann Pick type B

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000708830500004; volume:29; firstpage:100808; journal:MOLECULAR GENETICS AND METABOLISM REPORTS; https://hdl.handle.net/11577/3486192Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116246858

الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100808Test
https://hdl.handle.net/11577/3486192Test

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

المؤلفون: FUKUMI NAKAMURA, KEIKO TSUCHIHASHI, TADAO ORII, TOORU KUDOH, TOORU NAKAO

المصدر: The Tohoku Journal of Experimental Medicine. 1975, 117(2):193

المؤلفون: MURGIA, GIUSEPPE, FIRINU, DAVIDE, MELEDDU, RITA, LORRAI, MARIA MADDALENA, MANCONI, PAOLO EMILIO, DEL GIACCO, STEFANO

المساهمون: Murgia, Giuseppe, Firinu, Davide, Meleddu, Rita, Lorrai, MARIA MADDALENA, Manconi, PAOLO EMILIO, DEL GIACCO, Stefano

مصطلحات موضوعية: AUTOIMMUNITY, FEVER, LYSOSOMAL STORAGE DISORDER, NIEMANN-PICK, NIEMANN-PICK TYPE B DISEASE, SMPD1 GENE, SYSTEMIC LUPUS ERYTHEMATOSUS

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25966928; info:eu-repo/semantics/altIdentifier/wos/WOS:000361598700017; volume:24; issue:12; firstpage:1332; lastpage:1334; numberofpages:3; journal:LUPUS; http://hdl.handle.net/11584/91280Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84942105873

الإتاحة: https://doi.org/10.1177/0961203315585818Test
http://hdl.handle.net/11584/91280Test

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

المؤلفون: Agadr, A., Abilkassem, R., Nejjari, M., Ourrai, A., Dini, N., Sekhsokh, Y., Bounasse, M.

مصطلحات موضوعية: Niemann Pick, type B

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2cecbe016833ee9ae16fb523015fb56fTest