Sapropterin Hydrochloride: Enzyme Enhancement Therapy for Phenylketonuria

Por Lachmann, Robin
Publicado em 2011

Herpes simplex virus-based vectors

Por Lachmann, Robin H
Publicado em 2004

The clinical relevance of outcomes used in late-onset Pompe disease: can we do better?

Por Lachmann, Robin, Schoser, Benedikt
Publicado em 2013

Acute presentations of inherited metabolic disease in adulthood

Por Lee, Philip J, Lachmann, Robin H
Publicado no Clin Med (Lond) (2008)

Long-Term Transgene Expression in Mice Infected with a Herpes Simplex Virus Type 1 Mutant Severely Impaired for Immediate-Early Gene Expression

Por Marshall, Ker R., Lachmann, Robin H., Efstathiou, Stacey, Rinaldi, Angela, Preston, Chris M.
Publicado em 2000

Herpes Simplex Virus Type 1 Promoter Activity during Latency Establishment, Maintenance, and Reactivation in Primary Dorsal Root Neurons In Vitro

Por Arthur, Jane L., Scarpini, Cinzia G., Connor, Vivienne, Lachmann, Robin H., Tolkovsky, Aviva M., Efstathiou, Stacey
Publicado em 2001

Movement Disorders in Adult Surviving Patients with Maple Syrup Urine Disease

Por Carecchio, Miryam, Schneider, Susanne A., Chan, Heidi, Lachmann, Robin, Lee, Philip J., Murphy, Elaine, Bhatia, Kailash P.
Publicado no Mov Disord (2011)

Bladder and Bowel Dysfunction Is Common in Both Men and Women with Mutation of the ABCD1 Gene for X-Linked Adrenoleukodystrophy

Por Hofereiter, Johann, Smith, Matthew D., Seth, Jai, Tudor, Katarina Ivana, Fox, Zoe, Emmanuel, Anton, Murphy, Elaine, Lachmann, Robin H., Panicker, Jalesh
Publicado no JIMD Rep (2015)

Native T1 lowering in iron overload and Anderson Fabry disease; a novel and early marker of disease

Por Sado, Daniel, White, Steven K, Piechnik, Stefan K, Banypersad, Sanjay M, Treibel, Thomas A, Fontana, Marianna, Captur, Gaby, Maestrini, Viviana, Lachmann, Robin, Hughes, Derralyn, Murphy, Elaine, Porter, John, Mehta, Atul, Elliott, Perry, Moon, James
Publicado em 2013

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

Por 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
Publicado no J Med Genet (2015)

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

Por 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.
Publicado em 2009

Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

Por van der Tol, L., Cassiman, David, Houge, Gunnar, Janssen, Mirian C., Lachmann, Robin H, Linthorst, Gabor E, Ramaswami, Uma, Sommer, Claudia, Tøndel, Camilla, West, Michael L, Weidemann, Frank, Wijburg, Frits A, Svarstad, Einar, Hollak, Carla EM, Biegstraaten, Marieke
Publicado no JIMD Rep (2014)

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

Por 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
Publicado no J Cardiovasc Magn Reson (2014)

Invariant Natural Killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C

Por Speak, Anneliese O, Platt, Nicholas, Salio, Mariolina, te Vruchte, Danielle Taylor, Smith, David A, Shepherd, Dawn, Veerapen, Natacha, Besra, Gurdyal, Yanjanin, Nicole M., Simmons, Louise, Imrie, Jackie, Wraith, James E., Lachmann, Robin, Hartung, Ralf, Runz, Heiko, Mengel, Eugen, Beck, Michael, Hendriksz, Christian J, Porter, Forbes D, Cerundolo, Vincenzo, Platt, Frances M
Publicado em 2012

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1

Por Speak, Anneliese O., te Vruchte, Danielle, Davis, Lianne C., Morgan, Anthony J., Smith, David A., Yanjanin, Nicole M., Simmons, Louise, Hartung, Ralf, Runz, Heiko, Mengel, Eugen, Beck, Michael, Imrie, Jackie, Jacklin, Elizabeth, Wraith, James E., Hendriksz, Christian, Lachmann, Robin, Cognet, Celine, Sidhu, Rohini, Fujiwara, Hideji, Ory, Daniel S., Galione, Antony, Porter, Forbes D., Vivier, Eric, Platt, Frances M.
Publicado em 2014

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

Por Hollak, Carla E. M., Biegstraaten, Marieke, Baumgartner, Matthias R., Belmatoug, Nadia, Bembi, Bruno, Bosch, Annet, Brouwers, Martijn, Dekker, Hanka, Dobbelaere, Dries, Engelen, Marc, Groenendijk, Marike C., Lachmann, Robin, Langendonk, Janneke G., Langeveld, Mirjam, Linthorst, Gabor, Morava, Eva, Poll-The, Bwee Tien, Rahman, Shamima, Rubio-Gozalbo, M. Estela, Spiekerkoetter, Ute, Treacy, Eileen, Wanders, Ronald, Zschocke, Johannes, Hagendijk, Rob
Publicado no Orphanet J Rare Dis (2016)

Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage

Por Linthorst, Gabor E., Burlina, Alessandro P., Cecchi, Franco, Cox, Timothy M., Fletcher, Janice M., Feldt-Rasmussen, Ulla, Giugliani, Roberto, Hollak, Carla E. M., Houge, Gunnar, Hughes, Derralynn, Kantola, Iikka, Lachmann, Robin, Lopez, Monica, Ortiz, Alberto, Parini, Rossella, Rivera, Alberto, Rolfs, Arndt, Ramaswami, Uma, Svarstad, Einar, Tondel, Camilla, Tylki-Szymanska, Anna, Vujkovac, Bojan, Waldek, Steven, West, Michael, Weidemann, F., Mehta, Atul
Publicado em 2012

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Por Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, Mundy, Helen, Abulhoul, Lara, Broomfield, Alexander, Lachmann, Robin, Rahman, Yusof, Robinson, Peter H., MacPherson, Lesley, Foster, Katharine, Chong, W. Kling, Ridout, Deborah A., Bounford, Kirsten McKay, Waddington, Simon N., Mills, Philippa B., Gissen, Paul, Davison, James E.
Publicado no J Inherit Metab Dis (2017)

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Por Rüegger, Corinne M., Lindner, Martin, Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Das, Anibh, Gautschi, Matthias, Glahn, Esther M., Grünert, Sarah C., Hennermann, Julia, Hochuli, Michel, Huemer, Martina, Karall, Daniela, Kölker, Stefan, Lachmann, Robin H., Lotz-Havla, Amelie, Möslinger, Dorothea, Nuoffer, Jean-Marc, Plecko, Barbara, Rutsch, Frank, Santer, René, Spiekerkoetter, Ute, Staufner, Christian, Stricker, Tamar, Wijburg, Frits A., Williams, Monique, Burgard, Peter, Häberle, Johannes
Publicado em 2013

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

Por 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
Publicado no Gut (2017)