Treating lysosomal storage disorders: What have we learnt? von Lachmann, Robin H.

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Proposed Stages of Myocardial Phenotype Development in Fabry Disease von 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.

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Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping von 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

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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... von 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

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Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease von 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.

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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 von 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

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Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults von Lachmann, Robin H, Diaz, George A, Wasserstein, Melissa P, Armstrong, Nicole M, Yarramaneni, Abhimanyu, Kim, Yong, Kumar, Monica

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In-depth phenotyping for clinical stratification of Gaucher disease von D'Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y, Poole, Kenneth, Jones, Simon A, Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H, Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M

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Cognitive dysfunction and depression in Fabry disease: a systematic review von Bolsover, Fay E., Murphy, Elaine, Cipolotti, Lisa, Werring, David J., Lachmann, Robin H.

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Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study von Hennis, Philip J, Murphy, Elaine, Meijer, Rick I, Lachmann, Robin H, Ramachandran, Radha, Bordoli, Claire, Rayat, Gurinder, Tomlinson, David J

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Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension von Briot, Karine, Portale, Anthony A, Brandi, Maria Luisa, Carpenter, Thomas O, Cheong, Hae Ii, Cohen-Solal, Martine, Crowley, Rachel K, Eastell, Richard, Imanishi, Yasuo, Ing, Steven, Insogna, Karl, Ito, Nobuaki, Jan de Beur, Suzanne, Javaid, Muhammad K, Kamenicky, Peter, Keen, Richard, Kubota, Takuo, Lachmann, Robin H, Perwad, Farzana, Pitukcheewanont, Pisit, Ralston, Stuart H, Takeuchi, Yasuhiro, Tanaka, Hiroyuki, Weber, Thomas J, Yoo, Han-Wook, Nixon, Annabel, Nixon, Mark, Sun, Wei, Williams, Angela, Imel, Erik A

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Role of Serum N-Terminal Pro-Brain Natriuretic Peptide Measurement in Diagnosis of Cardiac Involvement in Patients With Anderson-Fabry Disease von Coats, Caroline J., MBBS, Parisi, Valentina, MD, Ramos, Monica, MD, Janagarajan, Kalaiarasi, MSc, O'Mahony, Constantinos, MBBS, Dawnay, Anne, PhD, Lachmann, Robin H., FRCP, Murphy, Elaine, MBBCh, Mehta, Atul, MD, Hughes, Derralynn, DPhil, Elliott, Perry M., MD

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Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment von Kamenicky, Peter, Briot, Karine, Brandi, Maria Luisa, Cohen-Solal, Martine, Crowley, Rachel K, Keen, Richard, Kolta, Sami, Lachmann, Robin H, Lecoq, Anne-Lise, Ralston, Stuart H, Walsh, Jennifer S, Rylands, Angela J, Williams, Angela, Sun, Wei, Nixon, Annabel, Nixon, Mark, Javaid, Muhammad K

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Movement Disorders in Adult Patients With Classical Galactosemia von 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

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Enzyme replacement therapy for lysosomal storage diseases von Lachmann, Robin H

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Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations von 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

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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 Primar... von 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

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Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease von 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

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Glucosylated free oligosaccharides are biomarkers of endoplasmic- reticulum alpha-glucosidase inhibition von Alonzi, Dominic S, Neville, David C A, Lachmann, Robin H, Dwek, Raymond A, Butters, Terry D

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Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months von Wasserstein, Melissa P., Diaz, George A., Lachmann, Robin H., Jouvin, Marie-Hélène, Nandy, Indrani, Ji, Allena J., Puga, Ana Cristina

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