المصدر: A Real-world Analysis of Pharmacodynamic Response to Velmanase Alfa (Lamzede®) Treatment in Patients With Alpha-Mannosidosis Less Than 3 Years of Age

المصدر: MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG

المساهمون: Joanne Kurtzberg, MD, Professor of Pediatrics

المصدر: Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases with Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells

المساهمون: Deepa Soundara Rajan, Associate Professor

المصدر: Longitudinal Study of Neurodegenerative Disorders

المصدر: Longitudinal Studies of the Glycoproteinoses
Kerr DA, Memoli VA, Cathey SS, Harris BT. Mucolipidosis type III alpha/beta: the first characterization of this rare disease by autopsy. Arch Pathol Lab Med. 2011 Apr;135(4):503-10. doi: 10.5858/2010-0236-CR.1.
David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D. The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29.
Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet. 2010 Jan;47(1):38-48. doi: 10.1136/jmg.2009.067736. Epub 2009 Jul 16.

المصدر: A Single-center, Un-controlled, Open-labeled Trial of the Long-term Safety of Lamazym Aftercare Treatment of Subjects With Alpha-Mannosidosis Whom Previously Participated in Lamazym Trials

المصدر: A Multi-center, Un-controlled, Open-labeled Trial of the Long-term Safety of Lamazym Aftercare Treatment of Subjects With Alpha-Mannosidosis Whom Previously Participated in Lamazym Trials

المؤلفون: Duke University

المصدر: Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders

المؤلفون: Jamil Amjad Hashmi, Muhammad Latif, Reham M. Balahmar, Muhammad Zeeshan Ali, Fatima Alfadhli, Muzammil Ahmad Khan, Sulman Basit

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: metabolic disorder, MAN2B1, alpha-mannosidosis, frameshift variant, developmental delay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1421943/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/40152060d0d64bdd981e616f587c034a

المؤلفون: Jacqueline E. Hunter, Caitlyn M. Molony, Jessica H. Bagel, Patricia O’Donnell, Charles H. Vite, Sanjeev Chawla, Harish Poptani, John H. Wolfe

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 2, Pp 101272- (2024)

مصطلحات موضوعية: alpha-mannosidosis cat, lysosomal storage disease, gyrencephalic brain, AAV gene therapy, cisterna magna, cerebrospinal fluid, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050124000883; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/32143ef83a1245e2aafcf6401173762a

المصدر: Biomarker for Mannosidosis Disease - An International, Multicenter, Epidemiological Protocol

المصدر: European Alpha-Mannosidosis Participant: An International, Multicenter, Epidemiological Protocol

المؤلفون: Julie M. Lander, Monica Penon-Portmann, V. Reid Sutton, Irene Chang

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101832- (2024)

مصطلحات موضوعية: Alpha-mannosidosis, Enzyme replacement therapy, Lysosomal disorder, Velmanase alfa, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009786; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/c823b505596e4ed2bcaa5d78365fd992

المؤلفون: Bertolini A., Rigoldi M., Cianflone A., Mariani R., Piperno A., Canonico F., Cefalo G., Carubbi F., Simonati A., Urban M. L., Beccari T., Parini R.

المساهمون: Bertolini, A., Rigoldi, M., Cianflone, A., Mariani, R., Piperno, A., Canonico, F., Cefalo, G., Carubbi, F., Simonati, A., Urban, M. L., Beccari, T., Parini, R.

مصطلحات موضوعية: alpha-mannosidosis, lysosomal storage disorders, MAN2B1 (MIM*609458), mannosidase

Relation: info:eu-repo/semantics/altIdentifier/pmid/37791705; info:eu-repo/semantics/altIdentifier/wos/WOS:001124021100003; volume:33; issue:1; firstpage:1; lastpage:8; journal:CLINICAL DYSMORPHOLOGY; https://hdl.handle.net/11380/1335947; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180008839

الاتاحة: https://hdl.handle.net/11380/1335947
https://doi.org/10.1097/MCD.0000000000000474

المؤلفون: Uguen, Kevin, Redon, Sylvia, Rouault, Karen, Pensec, Marine, Benech, Caroline, Schutz, Sacha, Zanlonghi, Xavier, Nadjar, Yann, Le Maréchal, Cédric, Férec, Claude, Audebert‐bellanger, Séverine

المساهمون: Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: alpha-mannosidosis, CNV, exome sequencing, MAN2B1, retinopathy, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38192009; PUBMED: 38192009

الاتاحة: https://hal.science/hal-04503163
https://hal.science/hal-04503163v1/document
https://hal.science/hal-04503163v1/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202024%20-%20Uguen%20-%20An%20unusual%20diagnosis%20of%20alpha%E2%80%90mannosidosis%20with%20ocular%20anomalies%20Behind.pdf
https://doi.org/10.1002/ajmg.a.63532

المؤلفون: Guffon, Nathalie, Burton, Barbara K., Ficicioglu, Can, Magner, Martin, Gil-Campos, Mercedes, Lopez-Rodriguez, Monica A., Jayakar, Parul, Lund, Allan M., Tal, Galit, Garcia-Ortiz, Jose Elias, Stepien, Karolina M., Ellaway, Carolyn, Al-Hertani, Walla, Giugliani, Roberto, Cathey, Sara S., Hennermann, Julia B., Lampe, Christina, McNutt, Markey, Lagler, Florian B., Scarpa, Maurizio, Sutton, V. Reid, Muschol, Nicole

المصدر: Guffon , N , Burton , B K , Ficicioglu , C , Magner , M , Gil-Campos , M , Lopez-Rodriguez , M A , Jayakar , P , Lund , A M , Tal , G , Garcia-Ortiz , J E , Stepien , K M , Ellaway , C , Al-Hertani , W , Giugliani , R , Cathey , S S , Hennermann , J B , Lampe , C , McNutt , M , Lagler , F B , Scarpa , M , Sutton , V R & Muschol , N 2024 , ' ....

مصطلحات موضوعية: Alpha-mannosidosis, Best practice, Delphi, Follow-up, International, Monitoring

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/monitoring-and-integrated-care-coordination-of-patients-with-alphamannosidosis(f0ef61b1-790f-4ae2-b381-e2a6a7d08044).html
https://doi.org/10.1016/j.ymgme.2024.108519
https://curis.ku.dk/ws/files/399074886/1_s2.0_S1096719224004037_main.pdf

المؤلفون: Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Eun Hye Cho, Chang-Seok Ki

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: alpha-mannosidosis, MAN2B1, carrier frequency, gnomAD, East Asian, Korean, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1297543/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/b7261236c02b4f59b43211aa1bb55482

المؤلفون: Line Gutte Borgwardt, Ferdinando Ceravolo, Giulia Zardi, Andrea Ballabeni, Allan Meldgaard Lund

المصدر: JIMD Reports, Vol 64, Iss 2, Pp 187-198 (2023)

مصطلحات موضوعية: alpha‐mannosidosis, antidrug antibody, infusion‐related reactions, MAN2B1, velmanase alfa, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/70f1d07fdc024aabb477b895d1046324

المؤلفون: Cromsource

المصدر: A 24-month Multicenter, Open-label Phase II Trial Investigating the Safety and Efficacy of Repeated Velmanase Alfa (Recombinant Human Alpha-mannosidase) Treatment in Pediatric Patients Below 6 Years of Age With Alpha-Mannosidosis