المؤلفون: Tebani, Abdellah, Abily-Donval, Lenaig, Schmitz-Afonso, Isabelle, Heron, Benedicte, Piraud, Monique, Ausseil, Jerome, Zerimech, Farid, Gonzalez, Bruno, Marret, Stephane, Afonso, Carlos, Bekri, Soumeya

المساهمون: CHU Lille, Institut Pasteur de Lille, Université de Lille, Impact de l'environnement chimique sur la santé humaine - ULR 4483 IMPECS

مصطلحات موضوعية: Mucopolysaccharidosis type III, Inborn errors of metabolism, Lysosomal storage diseases, Ion mobility, Mass spectrometry, Metabolomics

وصف الملف: application/rdf+xml; charset=utf-8; application/octet-stream

العلاقة: Journal of Translational Medicine; J Transl Med; http://hdl.handle.net/20.500.12210/59679Test

الإتاحة: https://doi.org/20.500.12210/59679Test
https://hdl.handle.net/20.500.12210/59679Test

المؤلفون: Eline C. B. Eskes, Cathrien R. L. Beishuizen, Eleonore M. Corazolla, Tessa van Middelaar, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Lysosomal storage diseases, Gaucher disease type 1, Fabry disease, Mucopolysaccharidosis type III, Gene therapy, Qualitative research, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/9d1b47e77b6549928fc8f4ca8c8e1114Test

المؤلفون: Nicole Muschol, Roberto Giugliani, Simon A. Jones, Joseph Muenzer, Nicholas J. C. Smith, Chester B. Whitley, Megan Donnell, Elise Drake, Kristina Elvidge, Lisa Melton, Cara O’Neill, MPS III Guideline Development Group

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-23 (2022)

مصطلحات موضوعية: Mucopolysaccharidosis type III, Sanfilippo syndrome, Diagnosis, Management, Recommendations, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/a5ad5c79ef39448c83fadab522d1e902Test

المؤلفون: Cyske Z, Anikiej-Wiczenbach P, Wisniewska K, Gaffke L, Pierzynowska K, Mański A, Wegrzyn G

المصدر: Journal of Multidisciplinary Healthcare, Vol Volume 15, Pp 2097-2110 (2022)

مصطلحات موضوعية: mucopolysaccharidosis type iii, accurate diagnosis, symptomatic treatment, psychological care, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/sanfilippo-syndrome-optimizing-care-with-a-multidisciplinary-approach-peer-reviewed-fulltext-article-JMDHTest; https://doaj.org/toc/1178-2390Test

الوصول الحر: https://doaj.org/article/df17ed6d4fd244d4bf37914956d97078Test

المؤلفون: Ghosh, Arunabha

المساهمون: Bigger, Brian, Jones, Simon

مصطلحات موضوعية: 616.3, Bone marrow transplantation, Haematopoietic stem cell transplantation, Substrate reduction therapy, Clinical trials, Genistein, Genistein aglycone, Glycosaminoglycans, Heparan sulfate, Clinical trial design, Enzyme replacement therapy, Immune tolerance induction, Antibodies, Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type III, Hurler syndrome, Anti-drug antibodies, Hurler-Scheie syndrome, Sanfilippo disease, Newborn screening, Genotype-phenotype correlations, Scheie syndrome

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.799376Test

المؤلفون: I. Bekiroglu, J. D. Tobias

المصدر: Pediatric Anesthesia and Critical Care Journal (PACCJ), Vol 9, Iss 1, Pp 30-35 (2021)

مصطلحات موضوعية: mucopolysaccharidosis type iii, sanfilippo syndrome, Pediatrics, RJ1-570, Anesthesiology, RD78.3-87.3

وصف الملف: electronic resource

العلاقة: http://www.anestesiarianimazione.com/PACCJ%202021/Perioperative%20care%20of%20a%20child%20with%20Sanfilippo%20syndrome%20for%20adenotonsillectomy.pdfTest; https://doaj.org/toc/2281-8421Test

الوصول الحر: https://doaj.org/article/4ecbe46dcd474c38a2019632003e55c8Test

المؤلفون: Santos, Juliana Inês, Matos, Liliana, Oliveira, Paula Alexandra, Gonçalves, Mariana, Pires, Maria João, Coutinho, Maria Francisca, Prata, Maria João, Alves, Sandra

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Lysosomal Storage Diseases, RNA Therapies, Mucopolysaccharidosis type III, Doenças Genéticas

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10400.18/7460Test

المؤلفون: Coutinho, Maria Francisca, Santos, Juliana Inês, Mendonça, Liliana Silva, Matos, Liliana, Prata, Maria João, Jurado, Amália Silva, Pedroso de Lima, Maria da Conceição, Alves, Sandra

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Lysosomal Storage Diseases, RNA Therapies, Mucopolysaccharidosis type III, SNALPs, Doenças Genéticas

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10400.18/7439Test

المؤلفون: Sandra Rafaela Breyer, Eik Vettorazzi, Leonie Schmitz, Amit Gulati, Katharina Maria von Cossel, Alexander Spiro, Martin Rupprecht, Ralf Stuecker, Nicole Maria Muschol

المصدر: Journal of Orthopaedic Surgery and Research, Vol 16, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Mucopolysaccharidosis type III, Sanfilippo syndrome, MPS, Osteonecrosis, Hip dysplasia, Femoral head, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1749-799XTest

الوصول الحر: https://doaj.org/article/7d4e15b449094098a01c733a9cd406b2Test

المؤلفون: Helen Beard, Glyn Chidlow, Daniel Neumann, Nazzmer Nazri, Meghan Douglass, Paul J. Trim, Marten F. Snel, Robert J. Casson, Kim M. Hemsley

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)

مصطلحات موضوعية: Retina, Mucopolysaccharidosis type III, Central nervous system, Eye, Lysosomal, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s40478-020-01070-wTest; https://doaj.org/toc/2051-5960Test

الوصول الحر: https://doaj.org/article/0622df76e85343deb9698b08b762440dTest