المؤلفون: Robin H. Lachmann, George A. Diaz, Melissa P. Wasserstein, Nicole M. Armstrong, Abhimanyu Yarramaneni, Yong Kim, Monica Kumar

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Olipudase alfa, Recombinant human acid sphingomyelinase, Acid sphingomyelinase deficiency, Niemann-Pick disease type B and type A/B, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/44948c4c23eb4eafbf4f6ef268c87d62

المؤلفون: Philip J. Hennis, Elaine Murphy, Rick I. Meijer, Robin H. Lachmann, Radha Ramachandran, Claire Bordoli, Gurinder Rayat, David J. Tomlinson

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Skeletal muscle, Glycogen storage disease type IIIa, Maximum voluntary contraction, Aerobic capacity, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c86d3665caab46428d8cf2f3b215a55c

المؤلفون: Simona D’Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom, Patrick Deegan, Chong Y. Tan, Kenneth Poole, Simon A. Jones, Atul Mehta, Derralynn Hughes, Reena Sharma, Robin H. Lachmann, Anupam Chakrapani, Tarekegn Geberhiwot, Saikat Santra, Siddarth Banka, Timothy M. Cox, the MRC GAUCHERITE Consortium

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)

مصطلحات موضوعية: Gaucher disease, Cohort, GAUCHERITE, Enzyme replacement therapy, Substrate reduction therapy, Disease-modifying therapies, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/2d16bd7af15d425fa25f19e95c76a8ad

المؤلفون: Maria Luisa Brandi, Suzanne Jan de Beur, Karine Briot, Thomas Carpenter, Hae Il Cheong, Martine Cohen-Solal, Rachel K. Crowley, Richard Eastell, Yasuo Imanishi, Erik A. Imel, Steven W. Ing, Karl Insogna, Nobuaki Ito, Kassim Javaid, Peter Kamenicky, Richard Keen, Takuo Kubota, Robin H. Lachmann, Farzana Perwad, Pisit Pitukcheewanont, Anthony Portale, Stuart H. Ralston, Hiroyuki Tanaka, Thomas J. Weber, Han-Wook Yoo, Wei Sun, Angela Williams, Annabel Nixon, Yasuhiro Takeuchi

المصدر: Calcified Tissue International. 111:409-418

مصطلحات موضوعية: Adult, Treatment Outcome, Endocrinology, Double-Blind Method, Endocrinology, Diabetes and Metabolism, Humans, Pain, Orthopedics and Sports Medicine, Familial Hypophosphatemic Rickets, Antibodies, Monoclonal, Humanized

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::295b16e222aedd117ee89fcf951b9d01
https://doi.org/10.1007/s00223-022-01006-7

المؤلفون: Robin H. Lachmann, Marc C. Patterson, Sandra Sirrs

المصدر: Journal of inherited metabolic diseaseREFERENCES. 45(3)

مصطلحات موضوعية: Drug Development, Metabolic Diseases, Genetics, Humans, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f34d285a47a52b5670be93cbaa03c315
https://pubmed.ncbi.nlm.nih.gov/35373847

المؤلفون: Peter Kamenicky, Karine Briot, Maria Luisa Brandi, Martine Cohen-Solal, Rachel K Crowley, Richard Keen, Sami Kolta, Robin H Lachmann, Anne-Lise Lecoq, Stuart H Ralston, Jennifer S Walsh, Angela J Rylands, Angela Williams, Wei Sun, Annabel Nixon, Mark Nixon, Muhammad K Javaid

المصدر: RMD Open. 9:e002676

مصطلحات موضوعية: Rheumatology, Immunology, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::13cdc4690a7ef4930810072da6387319
https://doi.org/10.1136/rmdopen-2022-002676

المؤلفون: Saco J. de Visser, Robin H. Lachmann, Vincent van der Wel, Mirjam Langeveld, Carla E. M. Hollak, Sandra Sirrs, Sibren van den Berg, Hanka Dekker

المساهمون: Endocrinology, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 15(1):235. BioMed Central

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Real world data, Drug Industry, Orphan Drug Production, Pharmacology toxicology, lcsh:Medicine, Disease registries, Disease, 030105 genetics & heredity, Orphan diseases, Orphan drug, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, medicine, Humans, Orphan drugs, Pharmacology (medical), Registries, Position Statement, Public funding, Drug Approval, Genetics (clinical), health care economics and organizations, Pharmaceutical industry, Marketing, Health professionals, business.industry, lcsh:R, General Medicine, Family medicine, Business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7c9258bbef2c1853c56548cee5a37f3
http://link.springer.com/article/10.1186/s13023-020-01519-0

المؤلفون: Marc Engelen, Wouter J.C. van Ballegoij, Eric James Mallack, Keith P. Van Haren, Wolfgang Köhler, Ettore Salsano, A.S.P. van Trotsenburg, Fanny Mochel, Caroline Sevin, Molly O Regelman, Nicholas A Tritos, Alyssa Halper, Robin H Lachmann, James Davison, Gerald V. Raymond, Troy Lund, Paul J. Orchard, Joern-Sven Kuehl, Caroline A. Lindemans, Paul Caruso, Bela Rui Turk, Ann B. Moser, Frederic M Vaz, Sacha Ferdinandusse, Stephan Kemp, Ali Fatemi, Florian S. Eichler, Irene C. Huffnagel

المساهمون: Neurology, Paediatric Neurology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Paediatric Pulmonology, Paediatrics, APH - Personalized Medicine, APH - Methodology, Pediatrics

المصدر: Engelen, M, van Ballegoij, W J C, Mallack, E J, van Haren, K P, Köhler, W, Salsano, E, van Trotsenburg, A S P, Mochel, F, Sevin, C, Regelmann, M O, Tritos, N A, Halper, A, Lachmann, R H, Davison, J, Raymond, G V, Lund, T C, Orchard, P J, Kuehl, J-S, Lindemans, C A, Caruso, P, Turk, B R, Moser, A B, Vaz, F M, Ferdinandusse, S, Kemp, S, Fatemi, A, Eichler, F S & Huffnagel, I C 2022, ' International Recommendations for the Diagnosis and Management of Patients with Adrenoleukodystrophy : A Consensus-Based Approach ', Neurology, vol. 99, no. 21, pp. 940-951 . https://doi.org/10.1212/WNL.0000000000201374
Neurology, 99(21), 940-951. Lippincott Williams and Wilkins

مصطلحات موضوعية: Male, Consensus, Neonatal Screening, Infant, Newborn, Hematopoietic Stem Cell Transplantation, Humans, Neurology (clinical), Adrenoleukodystrophy, Adrenal Insufficiency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f63f277fafcae3966c6a9313711633b
https://pubmed.ncbi.nlm.nih.gov/36175155

المؤلفون: Peter Burgard, Robin H. Lachmann, John H. Walter

المصدر: Inborn Metabolic Diseases ISBN: 9783662631225

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7795915f7e86bbaed49d1273d2ffbcf8
https://doi.org/10.1007/978-3-662-63123-2_16

المؤلفون: Thomas Weber, Karl L. Insogna, Stuart H. Ralston, Farzana Perwad, Erik A. Imel, Mark Nixon, Hae Ii Cheong, Richard Eastell, Nobuaki Ito, Robin H. Lachmann, Suzanne M. Jan de Beur, Yasuo Imanishi, Angela Williams, Martine Cohen-Solal, Peter Kamenicky, Wei Sun, Annabel Nixon, Pisit Pitukcheewanont, Anthony A. Portale, Thomas O. Carpenter, Muhammad Javaid, Karine Briot, Hiroyuki Tanaka, Maria Luisa Brandi, Steven W. Ing, Rachel K Crowley, Takuo Kubota, Han Wook Yoo, Richard Keen, Yasuhiro Takeuchi

المصدر: RMD Open, Vol 7, Iss 3 (2021)
RMD Open

مصطلحات موضوعية: Adult, medicine.medical_specialty, WOMAC, Immunology, Osteoarthritis, Placebo, Antibodies, Monoclonal, Humanized, Rheumatology, therapeutics, Immunology and Allergy, Medicine, Humans, Trial registration, outcome assessment, Brief Fatigue Inventory, business.industry, Treatments, healthcare, Antibodies, Monoclonal, medicine.disease, humanities, Walk test, patient reported outcome measures, Ambulatory, Physical therapy, Familial Hypophosphatemic Rickets, Open label, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63cd553f48f41260bba3c6ca756adb47
https://eprints.whiterose.ac.uk/178786/1/e001714.full.pdf