Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Robin H Lachmann"'
Autor:
Karine Briot, Wei Sun, Rachel K Crowley, Maria Luisa Brandi, Stuart H Ralston, Peter Kamenický, Martine Cohen-Solal, Richard Keen, Angela Williams, Muhammad K Javaid, Robin H Lachmann, Annabel Nixon, Mark Nixon, Anne-Lise Lecoq, Sami Kolta, Jennifer S Walsh, Angela J Rylands
Publikováno v:
RMD Open, Vol 9, Iss 1 (2023)
Objectives To report the impact of continued burosumab treatment on clinical laboratory tests of efficacy, patient-reported outcomes (PROs) and ambulatory function in adults with X-linked hypophosphataemia who continued from a 96-week phase 3 study i
Externí odkaz:
https://doaj.org/article/88b9695323e84af5a53817962185f340
Autor:
Karine Briot, Rachel K Crowley, Maria Luisa Brandi, Stuart H Ralston, Han-Wook Yoo, Peter Kamenický, Takuo Kubota, Nobuaki Ito, Martine Cohen-Solal, Richard Keen, Angela Williams, Muhammad K Javaid, Hiroyuki Tanaka, Robin H Lachmann, Karl Insogna, Richard Eastell, Yasuhiro Takeuchi, Anthony A Portale, Thomas O Carpenter, Hae Ii Cheong, Yasuo Imanishi, Steven Ing, Suzanne Jan de Beur, Farzana Perwad, Pisit Pitukcheewanont, Thomas J Weber, Annabel Nixon, Mark Nixon, Erik A Imel
Publikováno v:
RMD Open, Vol 7, Iss 3 (2021)
Externí odkaz:
https://doaj.org/article/1583f1afe5a54ea596b4387156690961
Autor:
Robin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, Gabriele Reinkensmeier, Daniel J Sillence, Luisa Fernandez-Guillen, Raymond A Dwek, Terry D Butters, Timothy M Cox, Frances M Platt
Publikováno v:
Neurobiology of Disease, Vol 16, Iss 3, Pp 654-658 (2004)
Niemann–Pick disease type C (NP-C) is a hereditary neurovisceral lipid storage disorder. Although traditionally considered a primary cholesterol storage disorder, a variety of glycolipids accumulate in NP-C cells, which resemble those from glycosph
Externí odkaz:
https://doaj.org/article/54513d545f024f84808dc10186519bc9
Autor:
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
Publikováno v:
Calcified Tissue International. 111:409-418
The anti-fibroblast growth factor 23 monoclonal antibody burosumab corrects hypophosphatemia in adults with X-linked hypophosphatemia (XLH) and improves pain, stiffness, physical function, and fatigue. This post hoc subgroup analysis used data from t
Autor:
Robin H. Lachmann, George A. Diaz, Melissa P. Wasserstein, Nicole M. Armstrong, Abhimanyu Yarramaneni, Yong Kim, Monica Kumar
Publikováno v:
Orphanet Journal of Rare Diseases. 18
Background Enzyme replacement therapy with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is indicated for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children and adults. An ongoing, op
Autor:
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
Publikováno v:
RMD Open. 9:e002676
ObjectivesTo report the impact of continued burosumab treatment on clinical laboratory tests of efficacy, patient-reported outcomes (PROs) and ambulatory function in adults with X-linked hypophosphataemia who continued from a 96-week phase 3 study in
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 45(3)
Autor:
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
Publikováno v:
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
Neurology, 99(21), 940-951. Lippincott Williams and Wilkins
Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive metabolic disorder characterized by three core clinical syndromes: a slowly progressive myeloneuropathy, a rapidly progressive inflammatory leukodystrophy (cerebral
Autor:
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
Publikováno v:
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
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 15(1):235. BioMed Central
Independent disease registries for pre-and post-approval of novel treatments for rare diseases are increasingly important for healthcare professionals, patients, regulators and the pharmaceutical industry. Current registries for rare diseases to eval
Autor:
Philip J. Hennis, Elaine Murphy, Rick I. Meijer, Robin H. Lachmann, Radha Ramachandran, Claire Bordoli, Gurinder Rayat, David J. Tomlinson
Publikováno v:
Orphanet Journal of Rare Diseases, 17, 1
Orphanet Journal of Rare Diseases, 17
Orphanet Journal of Rare Diseases, 17(1):28. BioMed Central
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Orphanet Journal of Rare Diseases
Hennis, P J, Murphy, E, Meijer, R I, Lachmann, R H, Ramachandran, R, Bordoli, C, Rayat, G & Tomlinson, D J 2022, ' Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa : an observational study ', Orphanet Journal of Rare Diseases, vol. 17, no. 1, 28 . https://doi.org/10.1186/s13023-022-02184-1
Orphanet Journal of Rare Diseases, 17
Orphanet Journal of Rare Diseases, 17(1):28. BioMed Central
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Orphanet Journal of Rare Diseases
Hennis, P J, Murphy, E, Meijer, R I, Lachmann, R H, Ramachandran, R, Bordoli, C, Rayat, G & Tomlinson, D J 2022, ' Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa : an observational study ', Orphanet Journal of Rare Diseases, vol. 17, no. 1, 28 . https://doi.org/10.1186/s13023-022-02184-1
Background Individuals with glycogen storage disease IIIa (GSD IIIa) (OMIM #232400) experience muscle weakness and exercise limitation that worsen through adulthood. However, normative data for markers of physical capacity, such as strength and cardi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3886df70b0dfd2e652ca56de5ad85cdf
https://irep.ntu.ac.uk/id/eprint/45983/1/1533009_Hennis.pdf
https://irep.ntu.ac.uk/id/eprint/45983/1/1533009_Hennis.pdf