Zobrazeno 1 - 10
of 307
pro vyhledávání: '"Lachmann, R. A."'
Publikováno v:
Quality of Life Research, 2020 Jul 01. 29(7), 1883-1893.
Externí odkaz:
https://www.jstor.org/stable/48733995
Publikováno v:
Der Gynäkologe; 20240101, Issue: Preprints p1-6, 6p
Autor:
D’Amore, S., Sano, H., Chappell, D., Chiarugi, D., Baker, O., Page, K., Ramaswami, U., Johannesdottir, F., Cox, T., Deegan, P., Poole, K., Platt, F., Banka, S., Chakrapani, A., Geberhiwot, T., Hughes, D., Jones, S., Lachmann, R., Santra, S., Sharma, R., Vellodi, A.
Publikováno v:
Radiology
Background Patients with Gaucher disease (GD) have a high risk of fragility fractures. Routine evaluation of bone involvement in these patients includes radiography and repeated dual-energy x-ray absorptiometry (DXA). However, osteonecrosis and bone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd777858c1163a09ffcd3ba9fca2795
https://europepmc.org/articles/PMC7614382/
https://europepmc.org/articles/PMC7614382/
Autor:
Hendriksz, Chris J, Hughes, D A, Mehta, A B, Wraith, J E, Jones, S E, Ramaswami, U, Deegan, P, Lachmann, R, Murphy, E, Hiwot, T, Vijay, S V, Stewart, F, Cleary, M
Publikováno v:
BMJ: British Medical Journal, 2012 Sep 01. 345(7872), 22-23.
Externí odkaz:
https://www.jstor.org/stable/23278523
Autor:
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., Cox, T. M., Platt, F. M., Banka, S., Chakrapani, A., Deegan, P. B., Geberhiwot, T., Hughes, D. A., Jones, S., Lachmann, R. H., Santra, S., Sharma, R., Vellodi, A.
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-22 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background The Gaucher Investigative Therapy Evaluation is a national clinical cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an ultra-rare genetic disorder. To inform clinical decision-making and improve pathop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2019fd6ca96eb1cda8c25a96cb5b49d
https://doi.org/10.1186/s13023-021-02034-6
https://doi.org/10.1186/s13023-021-02034-6
Autor:
Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Barić, Ivo, Lund, Allan M., Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides‐Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco‐ Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes i, Dionisi‐ Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Lee, Ni‐Chung, Karall, D., Scholl‐Bürgi, S., Lachmann, R., De Laet, C., Matsumoto, S., de Meirleir, L., Mühlhausen, C., Schiff, M., Peña‐Quintana, L., Djordjevic, M., Sarajlija, A., Sykut‐Cegielska, J., Wisniewska, A., Leao‐Teles, E., Alves, S., Vara, R., Vives‐Pinera, I., Ortega, D.G., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Additional individual contributors from E‐IMD
Publikováno v:
Molema, F, Gleich, F, Burgard, P, van der Ploeg, A T, Summar, M L, Chapman, K A, Barić, I, Lund, A M, Kölker, S, Williams, M & Additional individual contributors from E-IMD 2019, ' Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry ', Journal of Inherited Metabolic Disease, vol. 42, no. 6, pp. 1162-1175 . https://doi.org/10.1002/jimd.12066
Journal of Inherited Metabolic Disease, 42(6), 1162-1175. Springer Netherlands
Journal of inherited metabolic disease, 42(6), 1162-1175. Springer Netherlands
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 42(6), 1162-1175. Springer Netherlands
Journal of inherited metabolic disease, 42(6), 1162-1175. Springer Netherlands
Journal of inherited metabolic disease
Organic acidurias (OAD) and urea-cycle disorders (UCD) are rare inherited disorders affecting amino acid and protein metabolism. As dietary practice varies widely, we assessed their long-term prescribed dietary treatment against published guideline a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b89b7c01c485c59a8126f7cfff030cc7
https://doi.org/10.1002/jimd.12066
https://doi.org/10.1002/jimd.12066
Autor:
van der Ploeg, A. T., Kruijshaar, M. E., Toscano, A., Laforêt, P., Angelini, C., Lachmann, R. H., Pascual Pascual, S. I., Roberts, M., Rösler, K., Stulnig, T., van Doorn, P. A., Van den Bergh, P. Y. K., Vissing, J., Schoser, B., Bembi, Bruno, Broomfield, Alexander, Boentert, Matthias, Desnuelle, Claude, Findling, Oliver, Hahn, Andreas, Díaz-Manera, Jordi, Hundsberger, Thomas, Kornblum, Cornelia, Labarthé, Franҫois, Laforet, Pascal, Mengel, Karl-Eugen, Mongini, Tiziana, Muller-Felber, Wolfgang, Parenti, Giancarlo, Pijnappel, W. Pim, Preisler, Nicolai, Sacconi, Sabrina, Talim, Beril, Tardieu, Marine, van der Beek, Nadine A. M. E, Wenninger, Stephan
Publikováno v:
European Journal of Neurology, 24(6), 768-E31. Wiley-Blackwell Publishing Ltd
Nervno-Myšečnye Bolezni, Vol 8, Iss 4, Pp 19-34 (2019)
Nervno-Myshechnye Bolezni, 8(4), 19-34. ABV-press Publishing house
European Journal of Neurology, Vol. 24, no. 6, p. 768-779; e29-e31 (2017)
Neuromuscular Diseases, Vol. 8, no. 4, p. 19-34 (2018)
Nervno-Myšečnye Bolezni, Vol 8, Iss 4, Pp 19-34 (2019)
Nervno-Myshechnye Bolezni, 8(4), 19-34. ABV-press Publishing house
European Journal of Neurology, Vol. 24, no. 6, p. 768-779; e29-e31 (2017)
Neuromuscular Diseases, Vol. 8, no. 4, p. 19-34 (2018)
Введение. Болезнь Помпе – редкое наследственное мышечное заболевание, для лечения которого с 2006 г. применяют ферментную заместительную
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f2cad42d1a157fe5c9e1a6d56e1003d
https://doi.org/10.17650/2222-8721-2018-8-4-19-34
https://doi.org/10.17650/2222-8721-2018-8-4-19-34
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