Hasil Pencarian - Robin Lachmann

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  1. 1
    Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria

    Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria oleh Robin Lachmann

    Diterbitkan 2011-06-01
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  2. 2
    Valproate-induced hyperammonemia - uncovering an underlying inherited metabolic disorder: a case report

    Valproate-induced hyperammonemia - uncovering an underlying inherited metabolic disorder: a case report oleh Shaine Mehta, Sarrah Tayabali, Robin Lachmann

    Diterbitkan 2018-05-01
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  3. 3
    Functional electrical stimulation to aid walking in patients with adrenomyeloneuropathy: A case study and observational series

    Functional electrical stimulation to aid walking in patients with adrenomyeloneuropathy: A case study and observational series oleh William Goodison, Fred Baron, Coralie Seary, Elaine Murphy, Robin Lachmann, Valerie L. Stevenson

    Diterbitkan 2022-01-01
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  4. 4
    P349: Plasma lyso-sphingomyelin, biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials

    P349: Plasma lyso-sphingomyelin, biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials oleh Melissa Wasserstein, Roberto Giugliani, Simon Jones, Robin Lachmann, Maurizio Scarpa, Monica Kumar, Nicole Armstrong, Mario Aguiar

    Diterbitkan 2023-01-01
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  5. 5
    Physical function and mobility in adults with X-linked hypophosphatemia

    Physical function and mobility in adults with X-linked hypophosphatemia oleh Giorgio Orlando, Shane Clarke, Matthew Roy, Robin Lachmann, Jennifer Walsh, Marian Schini, Javaid Kassim, Alex Ireland

    Diterbitkan 2021-04-01
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  6. 6
    Education and training in adult metabolic medicine: Results of an international survey

    Education and training in adult metabolic medicine: Results of an international survey oleh Annalisa Sechi, Elisa Fabbro, Mirjam Langeveld, Annarita Tullio, Robin Lachmann, Fanny Mochel, the SSIEM Adult Physicians Metabolic Group

    Diterbitkan 2019-09-01
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  7. 7
    SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation

    SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation oleh Thorsten Marquardt, Vladimir Bzduch, Max Hogrebe, Stephan Rust, Janine Reunert, Marianne Grüneberg, Julien Park, Nico Callewaert, Robin Lachmann, Yoshinao Wada, Thomas Engel

    Diterbitkan 2020-12-01
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  8. 8
    Registries for orphan drugs: generating evidence or marketing tools?

    Registries for orphan drugs: generating evidence or marketing tools? oleh Carla E. M. Hollak, Sandra Sirrs, Sibren van den Berg, Vincent van der Wel, Mirjam Langeveld, Hanka Dekker, Robin Lachmann, Saco J. de Visser

    Diterbitkan 2020-09-01
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  9. 9
    Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives

    Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives oleh Lothar Seefried, Martin Biosse Duplan, Martin Biosse Duplan, Martin Biosse Duplan, Karine Briot, Michael T. Collins, Rachel Evans, Pablo Florenzano, Pablo Florenzano, Neil Hawkins, Muhammad Kassim Javaid, Robin Lachmann, Leanne M. Ward

    Diterbitkan 2023-07-01
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  10. 10
    Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

    Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials oleh Mario Cortina-Borja, Danielle te Vruchte, Eugen Mengel, Yasmin Amraoui, Jackie Imrie, Simon A. Jones, Christine i Dali, Paul Fineran, Thomas Kirkegaard, Heiko Runz, Robin Lachmann, Tatiana Bremova-Ertl, Michael Strupp, Frances M. Platt

    Diterbitkan 2018-08-01
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  11. 11
    Long-term safety in adults with X-linked Hypophosphatemia (XLH) treated with Burosumab, a fully human monoclonal antibody against FGF23: Final results of a phase 3 trial

    Long-term safety in adults with X-linked Hypophosphatemia (XLH) treated with Burosumab, a fully human monoclonal antibody against FGF23: Final results of a phase 3 trial oleh Peter Kamenický, Anthony A. Portale, Tom Carpenter, Karine Briot, Erik A. Imel, Thomas Weber, Pisit Pitukcheewanont, Hae Il Cheong, Suzanne Jan de Beur, Yasuo Imanishi, Nobuaki Ito, Robin Lachmann, Hiroyuki Tanaka, Farzana Perwad, Lin Zhang, Alison Skrinar, Linda Rees, Karl L. Insogna

    Diterbitkan 2020-10-01
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  12. 12
    Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial

    Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND tr... oleh Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar

    Diterbitkan 2023-12-01
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