Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
Chesher, Douglas, Oddy, Michael, Darbar, Ulpee, Sayal, Parag, Casey, Adrian, Ryan, Aidan, Sechi, Annalisa, Simister, Charlotte, Waters, Aoife, Wedatilake, Yehani, Lachmann, Robin H., Murphy, Elaine
Published in Journal of inherited metabolic disease (01.09.2018)
Published in Journal of inherited metabolic disease (01.09.2018)
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A Randomized, Double‐Blind, Placebo‐Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti‐FGF23 Antibody, in Adults With X‐Linked Hypophosphatemia: Week 24 Primary Analysis
Insogna, Karl L, Briot, Karine, Imel, Erik A, Kamenický, Peter, Ruppe, Mary D, Portale, Anthony A, Weber, Thomas, Pitukcheewanont, Pisit, Cheong, Hae Il, Jan de Beur, Suzanne, Imanishi, Yasuo, Ito, Nobuaki, Lachmann, Robin H, Tanaka, Hiroyuki, Perwad, Farzana, Zhang, Lin, Chen, Chao‐Yin, Theodore‐Oklota, Christina, Mealiffe, Matt, San Martin, Javier, Carpenter, Thomas O
Published in Journal of bone and mineral research (01.08.2018)
Published in Journal of bone and mineral research (01.08.2018)
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Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial
Raal, Frederick J, Prof, Santos, Raul D, MD, Blom, Dirk J, MD, Marais, A David, Prof, Charng, Min-Ji, MD, Cromwell, William C, MD, Lachmann, Robin H, MRCP, Gaudet, Daniel, MD, Tan, Ju L, MB BS, Chasan-Taber, Scott, PhD, Tribble, Diane L, PhD, Flaim, JoAnn D, PhD, Crooke, Stanley T, MD
Published in The Lancet (British edition) (20.03.2010)
Published in The Lancet (British edition) (20.03.2010)
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Proposed Stages of Myocardial Phenotype Development in Fabry Disease
Nordin, Sabrina, Kozor, Rebecca, Medina-Menacho, Katia, Abdel-Gadir, Amna, Baig, Shanat, Sado, Daniel M., Lobascio, Ilaria, Murphy, Elaine, Lachmann, Robin H., Mehta, Atul, Edwards, Nicola C., Ramaswami, Uma, Steeds, Richard P., Hughes, Derralynn, Moon, James C.
Published in JACC. Cardiovascular imaging (01.08.2019)
Published in JACC. Cardiovascular imaging (01.08.2019)
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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
Germain, Dominique P, Charrow, Joel, Desnick, Robert J, Guffon, Nathalie, Kempf, Judy, Lachmann, Robin H, Lemay, Roberta, Linthorst, Gabor E, Packman, Seymour, Scott, C Ronald, Waldek, Stephen, Warnock, David G, Weinreb, Neal J, Wilcox, William R
Published in Journal of medical genetics (01.05.2015)
Published in Journal of medical genetics (01.05.2015)
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Reproducibility of native myocardial T1 mapping in the assessment of Fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance
Pica, Silvia, Sado, Daniel M, Maestrini, Viviana, Fontana, Marianna, White, Steven K, Treibel, Thomas, Captur, Gabriella, Anderson, Sarah, Piechnik, Stefan K, Robson, Matthew D, Lachmann, Robin H, Murphy, Elaine, Mehta, Atul, Hughes, Derralyn, Kellman, Peter, Elliott, Perry M, Herrey, Anna S, Moon, James C
Published in Journal of cardiovascular magnetic resonance (05.12.2014)
Published in Journal of cardiovascular magnetic resonance (05.12.2014)
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Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months
Wasserstein, Melissa P., Diaz, George A., Lachmann, Robin H., Jouvin, Marie-Hélène, Nandy, Indrani, Ji, Allena J., Puga, Ana Cristina
Published in Journal of inherited metabolic disease (01.09.2018)
Published in Journal of inherited metabolic disease (01.09.2018)
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Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping
Sado, Daniel M, White, Steven K, Piechnik, Stefan K, Banypersad, Sanjay M, Treibel, Thomas, Captur, Gabriella, Fontana, Marianna, Maestrini, Viviana, Flett, Andrew S, Robson, Matthew D, Lachmann, Robin H, Murphy, Elaine, Mehta, Atul, Hughes, Derralynn, Neubauer, Stefan, Elliott, Perry M, Moon, James C
Published in Circulation. Cardiovascular imaging (01.05.2013)
Published in Circulation. Cardiovascular imaging (01.05.2013)
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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
Neumann, Juliane, Bras, Jose, Deas, Emma, O'Sullivan, Sean S., Parkkinen, Laura, Lachmann, Robin H., Li, Abi, Holton, Janice, Guerreiro, Rita, Paudel, Reema, Segarane, Badmavady, Singleton, Andrew, Lees, Andrew, Hardy, John, Houlden, Henry, Revesz, Tamas, Wood, Nicholas W.
Published in Brain (London, England : 1878) (01.07.2009)
Published in Brain (London, England : 1878) (01.07.2009)
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Lost in translation—Challenges in drug development for inherited metabolic diseases
Lachmann, Robin H., Patterson, Marc C., Sirrs, Sandra
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review
Burlina, Alessandro P., Lachmann, Robin H., Manara, Renzo, Cazzorla, Chiara, Celato, Andrea, van Spronsen, Francjan J., Burlina, Alberto
Published in Journal of inherited metabolic disease (01.03.2019)
Published in Journal of inherited metabolic disease (01.03.2019)
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Movement Disorders in Adult Patients With Classical Galactosemia
Rubio-Agusti, Ignacio, Carecchio, Miryam, Bhatia, Kailash P., Kojovic, Maja, Parees, Isabel, Chandrashekar, Hoskote S., Footitt, Emma J., Burke, Derek, Edwards, Mark J., Lachmann, Robin H.L., Murphy, Elaine
Published in Movement disorders (01.06.2013)
Published in Movement disorders (01.06.2013)
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Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease
Schwerd, Tobias, Pandey, Sumeet, Yang, Huei-Ting, Bagola, Katrin, Jameson, Elisabeth, Jung, Jonathan, Lachmann, Robin H, Shah, Neil, Patel, Smita Y, Booth, Claire, Runz, Heiko, Düker, Gesche, Bettels, Ruth, Rohrbach, Marianne, Kugathasan, Subra, Chapel, Helen, Keshav, Satish, Elkadri, Abdul, Platt, Nick, Muise, Alexio M, Koletzko, Sibylle, Xavier, Ramnik J, Marquardt, Thorsten, Powrie, Fiona, Wraith, James E, Gyrd-Hansen, Mads, Platt, Frances M, Uhlig, Holm H
Published in Gut (01.06.2017)
Published in Gut (01.06.2017)
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Cardiovascular magnetic resonance measurement of myocardial extracellular volume in health and disease
Sado, Daniel M, Flett, Andrew S, Banypersad, Sanjay M, White, Steven K, Maestrini, Viviana, Quarta, Giovanni, Lachmann, Robin H, Murphy, Elaine, Mehta, Atul, Hughes, Derralynn A, McKenna, William J, Taylor, Andrew M, Hausenloy, Derek J, Hawkins, Philip N, Elliott, Perry M, Moon, James C
Published in Heart (British Cardiac Society) (01.10.2012)
Published in Heart (British Cardiac Society) (01.10.2012)
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Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment
Thurberg, Beth L., Diaz, George A., Lachmann, Robin H., Schiano, Thomas, Wasserstein, Melissa P., Ji, Allena J., Zaher, Atef, Peterschmitt, M. Judith
Published in Molecular genetics and metabolism (01.09.2020)
Published in Molecular genetics and metabolism (01.09.2020)
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Journal Article
Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults
Lachmann, Robin H, Diaz, George A, Wasserstein, Melissa P, Armstrong, Nicole M, Yarramaneni, Abhimanyu, Kim, Yong, Kumar, Monica
Published in Orphanet journal of rare diseases (25.04.2023)
Published in Orphanet journal of rare diseases (25.04.2023)
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Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study
Brandi, Maria Luisa, Jan de Beur, Suzanne, Briot, Karine, Carpenter, Thomas, Cheong, Hae Il, Cohen-Solal, Martine, Crowley, Rachel K., Eastell, Richard, Imanishi, Yasuo, Imel, Erik A., Ing, Steven W., Insogna, Karl, Ito, Nobuaki, Javaid, Kassim, Kamenicky, Peter, Keen, Richard, Kubota, Takuo, Lachmann, Robin H., Perwad, Farzana, Pitukcheewanont, Pisit, Portale, Anthony, Ralston, Stuart H., Tanaka, Hiroyuki, Weber, Thomas J., Yoo, Han-Wook, Sun, Wei, Williams, Angela, Nixon, Annabel, Takeuchi, Yasuhiro
Published in Calcified tissue international (01.10.2022)
Published in Calcified tissue international (01.10.2022)
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