المؤلفون: Clarke, Lorne, Ellaway, Carolyn, Foster, Helen E., Giugliani, Roberto, Goizet, Cyril, Goring, Sarah, Hawley, Sara, Jurecki, Elaina, Khan, Zaeem, Lampe, Christina, Martin, Ken, McMullen, Suzanne, Mitchell, John J., Mubarack, Fathima, Sivri, H. Serap, Villarreal, Martha Solano, Stewart, Fiona J., Tylki-Szymanska, Anna, White, Klane, Wijburg, Frits

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2018 6

مصطلحات موضوعية: mucopolysaccharidoses, mucopolysaccharidoses I, mucopolysaccharidoses II, mucopolysaccharidoses III, mucopolysaccharidoses IV, mucopolysaccharidoses VI, mucopolysaccharidoses VII, diagnosis

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100317

المؤلفون: Borgwardt, Line, Guffon, Nathalie, Amraoui, Yasmina, Jones, Simon A., Meirleir, Linda De, Lund, Allan M., Gil-Campos, Mercedes, Hout, Johanna M. P. Van den, Tylki-Szymanska, Anna, Geraci, Silvia, Ardigò, Diego, Cattaneo, Federica, Harmatz, Paul, Phillips, Dawn

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2018 6

مصطلحات موضوعية: alpha-mannosidosis, recombinant human alpha-mannosidase, CHAQ, EQ-5D-5L, HRQoL, disability

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100310

المؤلفون: Biegstraaten, M, Cox, TM, Belmatoug, N, Berger, MG, Collin-Histed, T, Dahl, SV, Di Rocco, M, Fraga, C, Giona, F, Giraldo, P, Hasanhodzic, M, Hughes, DA, Iversen, PO, Kiewiet, AI, Lukina, E, Machaczka, M, Marinakis, T, Mengel, E, Pastores, GM, Plockinger, U, Rosenbaum, H, Serratrice, C, Symeonidis, A, Szer, J, Timmerman, J, Tylki-Szymanska, A, Hubshman, MW, Zafeiriou, DI, Zimran, A, Hollak, CEM

المصدر: Blood cells, molecules & diseases. 68:203-208

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137154815

المؤلفون: Mengel, Eugen, Patterson, Marc C, Da Riol, Rosalia M, Del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Harmatz, Paul, Héron, Bénédicte, Maier, Esther M, Roubertie, Agathe, Santra, Saikat, Tylki‐Szymanska, Anna, Day, Simon, Andreasen, Anne Katrine, Geist, Marie Aavang, Petersen, Nikolaj Havnsøe Torp, Ingemann, Linda, Hansen, Thomas, Blaettler, Thomas, Kirkegaard, Thomas, Dali, Christine

المصدر: Journal of Inherited Metabolic Disease. 44(6)

مصطلحات موضوعية: Clinical Research, Clinical Trials and Supportive Activities, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adolescent, Child, Child, Preschool, Disease Progression, Double-Blind Method, Female, Humans, Hydroxylamines, Internationality, Male, Niemann-Pick Disease, Type C, Prospective Studies, Severity of Illness Index, Treatment Outcome, Young Adult, arimoclomol, biomarker, double-blindplacebo-controlled, heat shock protein, Niemann-Pick disease type C, NPC clinical severity scale, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2zk0w272
https://escholarship.org/content/qt2zk0w272/qt2zk0w272.pdf

المؤلفون: Pawel Dubiela, Paulina Szymanska-Rozek, Piotr Hasinski, Patryk Lipinski, Grazina Kleinotiene, Dorota Giersz, Anna Tylki-Szymanska

المصدر: Biomolecules, Vol 14, Iss 7, p 842 (2024)

مصطلحات موضوعية: biomarker, enzyme replacement therapy, Gaucher disease, glucosylsphingosine, lyso-Gb1, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-273X/14/7/842; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/beef81b50a8349ceb2834646c8c9db0c

المؤلفون: Paulina Szymańska-Rożek, Patryk Lipiński, Grazina Kleinotiene, Paweł Dubiela, Anna Tylki-Szymańska

المصدر: International Journal of Molecular Sciences ; Volume 25 ; Issue 22 ; Pages: 12021

مصطلحات موضوعية: Gaucher disease, glucosphingosine, placenta, carrier

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms252212021

الاتاحة: https://doi.org/10.3390/ijms252212021

المؤلفون: Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska

المصدر: Diagnostics, Vol 14, Iss 17, p 1956 (2024)

مصطلحات موضوعية: height, hematopoietic stem cell transplantation, mucopolysaccharidosis, children, Medicine (General), R5-920

Relation: https://www.mdpi.com/2075-4418/14/17/1956; https://doaj.org/toc/2075-4418; https://doaj.org/article/c3be6138faa04bbda6f81883f78fec11

الاتاحة: https://doi.org/10.3390/diagnostics14171956
https://doaj.org/article/c3be6138faa04bbda6f81883f78fec11

المؤلفون: Patryk Lipiński, Anna Tylki-Szymańska

المصدر: Diagnostics, Vol 14, Iss 12, p 1299 (2024)

مصطلحات موضوعية: liver, hepatomegaly, splenomegaly, elevated transaminases, liver fibrosis, Gaucher disease, Medicine (General), R5-920

Relation: https://www.mdpi.com/2075-4418/14/12/1299; https://doaj.org/toc/2075-4418; https://doaj.org/article/34d87303af1d4414bd29d5c7b4e829cf

الاتاحة: https://doi.org/10.3390/diagnostics14121299
https://doaj.org/article/34d87303af1d4414bd29d5c7b4e829cf

المؤلفون: El-Beshlawy, Amal, Tylki-Szymanska, Anna, Belmatoug, Nadia, Mistry, Pramod K

المصدر: Future Rare Diseases ; volume 4, issue 1 ; ISSN 2399-5270

الاتاحة: http://dx.doi.org/10.2217/frd-2023-0015
https://www.tandfonline.com/doi/pdf/10.2217/frd-2023-0015

المؤلفون: Machaczka, M, Arce, MP, Rucinska, M, Yoshitake, T, Kehr, J, Jurczak, W, Skotnicki, AB, Månsson, JE, Tylki-Szymanska, A, Svenningsson, P

المصدر: JIMD reports. 3:53-7

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:223430873

المؤلفون: Guffon, Nathalie, Borgwardt, Line, Tylki-Szymańska, Anna, Ballabeni, Andrea, Donà, Francesca, Joseph, Amer, Nienhuis, Henriët, Maugeri, Caterina, Lund, Allan

المصدر: J Inherit Metab Dis ; ISSN:1573-2665 ; Volume:48 ; Issue:1

مصطلحات موضوعية: alpha‐mannosidosis, enzyme replacement therapy, long‐term efficacy and safety, lysosomal storage disorder, recombinant enzymes, velmanase alfa

Relation: https://doi.org/10.1002/jimd.12799; https://pubmed.ncbi.nlm.nih.gov/39381850; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667663/

الاتاحة: https://doi.org/10.1002/jimd.12799
https://pubmed.ncbi.nlm.nih.gov/39381850
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667663/

المؤلفون: Lund, Allan M, Borgwardt, Line, Cattaneo, Federica, Ardigò, Diego, Geraci, Silvia, Gil‐Campos, Mercedes, De Meirleir, Linda, Laroche, Cécile, Dolhem, Philippe, Cole, Duncan, Tylki‐Szymanska, Anna, Lopez‐Rodriguez, Monica, Guillén‐Navarro, Encarna, Dali, Christine I, Héron, Bénédicte, Fogh, Jens, Muschol, Nicole, Phillips, Dawn, Van den Hout, JM Hannerieke, Jones, Simon A, Amraoui, Yasmina, Harmatz, Paul, Guffon, Nathalie

المصدر: Journal of Inherited Metabolic Disease. 41(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Activities of Daily Living, Adolescent, Adult, Child, Enzyme Replacement Therapy, Europe, Female, Follow-Up Studies, Humans, Male, Quality of Life, Recombinant Proteins, Severity of Illness Index, Treatment Outcome, Young Adult, alpha-Mannosidase, alpha-Mannosidosis, Alpha-mannosidosis, Recombinant human alpha-mannosidase, Lysosomal storage disorder, Enzyme replacement therapy, Velmanase alfa, Integrated analysis, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5270m448
https://escholarship.org/content/qt5270m448/qt5270m448.pdf

المؤلفون: Szymanska-Rozek, Paulina, Czartoryska, Barbara, Kleinotienė, Gražina, Lipinski, Patryk, Tylki-Szymanska, Anna, Lugowska, Agnieszka

المصدر: Biomolecules., Basel : MDPI, 2023, vol. 13, iss. 3, art. no. 436, p. [1-12]. ; eISSN 2218-273X

مصطلحات موضوعية: chitotriosidase, Gaucher disease, macrophages, enzyme replacement therapy

وصف الملف: application/pdf

Relation: https://epublications.vu.lt/object/elaba:165096285/165096285.pdf; https://repository.vu.lt/VU:ELABAPDB165096285&prefLang=en_US

الاتاحة: https://repository.vu.lt/VU:ELABAPDB165096285&prefLang=en_US

المؤلفون: Deegan, Patrick B., Goker-Alpan, Özlem, Geberhiwot, Tarekegn, Hopkin, Robert J., Lukina, Elena A., Tylki-Szymanska, Anna, Zaher, Atef, Sensinger, Charlotte H., Gaemers, Sebastiaan J.M., Modur, Vijay, Thurberg, Beth L., Sharma, Jyoti, Najafian, Behzad, Mauer, S. Michael, Dasmahapatra, Pronabesh, Wilcox, William Ross, Germain, Dominique Paul

المساهمون: Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), U54NS065768, Sanofi, Takeda Pharmaceutical Company, TPC, Rare Diseases Clinical Research Network, RDCRN, The authors received editorial/writing support in the preparation of this manuscript from Tom Rouwette (Excerpta Medica), Divya Parker, and Colin Glen (Lucid Group), funded by Sanofi, and from Hans Ebels of Sanofi. The authors were responsible for all content and editorial decisions., The studies were funded by Sanofi. The sponsor had a role in the study design, data analysis, and data interpretation. The EM work was also supported by a grant (MM and BN) from the National Institutes of Health Lysosomal Disease Network (U54NS065768), a part of the National Clinical Assessment and Treatment Service (NCATS) Rare Diseases Clinical Research Network (RDCRN). RDCRN is an initiative of the Office of Rare Diseases Research, NCATS, funded through a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), and the National Institute of Diabetes and Digestive and Kidney Diseases., T.G. Has received research funding from Sanofi and Takeda.

المصدر: ISSN: 1096-7192.

مصطلحات موضوعية: Fabry disease, Glycosphingolipid synthesis, Lysosomal storage disorder, Substrate reduction therapy, Venglustat, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/36481125; hal-04122475; https://hal.science/hal-04122475; https://hal.science/hal-04122475/document; https://hal.science/hal-04122475/file/1-s2.0-S1096719222004322-main.pdf; PUBMED: 36481125

الاتاحة: https://hal.science/hal-04122475
https://hal.science/hal-04122475/document
https://hal.science/hal-04122475/file/1-s2.0-S1096719222004322-main.pdf
https://doi.org/10.1016/j.ymgme.2022.11.002

المؤلفون: Zbigniew Żuber, Beata Kieć-Wilk, Łukasz Kałużny, Jolanta Wierzba, Anna Tylki-Szymańska

المصدر: Biomedicines; Volume 11; Issue 6; Pages: 1668

مصطلحات موضوعية: lysosomal storage disease, mucopolysaccharidosis II, Hunter syndrome, enzyme replacement therapy

وصف الملف: application/pdf

Relation: Molecular and Translational Medicine; https://dx.doi.org/10.3390/biomedicines11061668

الاتاحة: https://doi.org/10.3390/biomedicines11061668

المؤلفون: Paweł Dubiela, Paulina Szymańska-Rożek, Andrzej Eljaszewicz, Patryk Lipiński, Piotr Hasiński, Dorota Giersz, Alicja Walewska, Marlena Tynecka, Marcin Moniuszko, Anna Tylki-Szymańska

المصدر: Biomolecules; Volume 13; Issue 4; Pages: 644

مصطلحات موضوعية: Gaucher disease, Parkinson’s disease, glucosylsphingosine, α-synuclein, enzyme replacement therapy

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biomarkers; https://dx.doi.org/10.3390/biom13040644

الاتاحة: https://doi.org/10.3390/biom13040644

المؤلفون: Paulina Szymańska-Rożek, Barbara Czartoryska, Grazina Kleinotiene, Patryk Lipiński, Anna Tylki-Szymańska, Agnieszka Ługowska

المصدر: Biomolecules; Volume 13; Issue 3; Pages: 436

مصطلحات موضوعية: chitotriosidase, Gaucher disease, macrophages, enzyme replacement therapy

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biomarkers; https://dx.doi.org/10.3390/biom13030436

الاتاحة: https://doi.org/10.3390/biom13030436

المؤلفون: Aleksandar Videnovic, Helle C. V. Pfeiffer, Anna Tylki-Szymańska, Elizabeth Berry-Kravis, Fatih Ezgü, Jitendra Ganju, Agnieszka Jurecka, Anthony E. Lang

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: ultra-rare disease, orphan disease, clinical trial design, inborn errors of metabolism, movement disorders, Neurology. Diseases of the nervous system, RC346-429

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1098454/full; https://doaj.org/toc/1664-2295; https://doaj.org/article/ebbf74300d3d4350b2850d489a3bf6bc

الاتاحة: https://doi.org/10.3389/fneur.2023.1098454
https://doaj.org/article/ebbf74300d3d4350b2850d489a3bf6bc

المؤلفون: Dooms, Marc Marie, Ayme, Segolene, Cox, Timothy Martin, Tylki-Szymańska, Anna

المصدر: Frontiers Research Topics ; ISSN 1664-8714 ; ISBN 9782832504819

الاتاحة: http://dx.doi.org/10.3389/978-2-8325-0481-9

المؤلفون: Julia B. Hennermann, Nathalie Guffon, Federica Cattaneo, Ferdinando Ceravolo, Line Borgwardt, Allan M. Lund, Mercedes Gil-Campos, Anna Tylki-Szymanska, Nicole M. Muschol

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Alpha-mannosidosis, Recombinant alpha-mannosidase, Velmanase alfa, Patient registry, Enzyme-replacement therapy, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01549-8; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/90630bbf711a4b969e8a97693805faa5