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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 -
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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