Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up
Tylki- Szymanska, A, Jurecka, A, Zuber, Z, Rozdzynska, A, Marucha, J, Czartoryska, B
Published in Acta Paediatrica (01.01.2012)
Published in Acta Paediatrica (01.01.2012)
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Journal Article
Management of neuronopathic Gaucher disease: Revised recommendations
Vellodi, A, Tylki-Szymanska, A, Davies, E. H, Kolodny, E, Bembi, B, Collin-Histed, T, Mengel, E, Erikson, A, Schiffmann, R
Published in Journal of inherited metabolic disease (01.10.2009)
Published in Journal of inherited metabolic disease (01.10.2009)
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Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
Cox, T. M., Aerts, J. M. F. G., Belmatoug, N., Cappellini, M. D., vom Dahl, S., Goldblatt, J., Grabowski, G. A., Hollak, C. E. M., Hwu, P., Maas, M., Martins, A. M., Mistry, P. K., Pastores, G. M., Tylki-Szymanska, A., Yee, J., Weinreb, N.
Published in Journal of inherited metabolic disease (01.06.2008)
Published in Journal of inherited metabolic disease (01.06.2008)
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Journal Article
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study
Borgwardt, L., Dali, C. I., Fogh, J., Månsson, J. E., Olsen, K. J., Beck, H. C., Nielsen, K. G., Nielsen, L. H., Olsen, S. O. E., Riise Stensland, H. M. F., Nilssen, O., Wibrand, F., Thuesen, A. M., Pearl, T., Haugsted, U., Saftig, P., Blanz, J., Jones, S. A., Tylki-Szymanska, A., Guffon-Fouiloux, N., Beck, M., Lund, A. M.
Published in Journal of inherited metabolic disease (01.11.2013)
Published in Journal of inherited metabolic disease (01.11.2013)
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Journal Article
Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases
Davies, E. H, Erikson, A, Collin-Histed, T, Mengel, E, Tylki-Szymanska, A, Vellodi, A
Published in Journal of inherited metabolic disease (01.11.2007)
Published in Journal of inherited metabolic disease (01.11.2007)
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Journal Article
Management of neuronopathic Gaucher disease: A European consensus
Vellodi, A., Bembi, B., Villemeur, T. B., Collin‐Histed, T., Erikson, A., Mengel, E., Rolfs, A., Tylki‐Szymanska, A.
Published in Journal of inherited metabolic disease (01.06.2001)
Published in Journal of inherited metabolic disease (01.06.2001)
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Journal Article
Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group
Guffon, N., Tylki-Szymanska, A., Borgwardt, L., Lund, A.M., Gil-Campos, M., Parini, R., Hennermann, J.B.
Published in Molecular genetics and metabolism (01.04.2019)
Published in Molecular genetics and metabolism (01.04.2019)
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Journal Article
Diagnostic difficulties in patients with attenuated form of MPS VI
Opoka – Winiarska, V, Jurecka, A, Tylki – Szymańska, A, Emeryk, A
Published in Pediatric Rheumatology (14.09.2011)
Published in Pediatric Rheumatology (14.09.2011)
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Journal Article
Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations
Jurecka, A., Popowska, E., Tylki-Szymanska, A., Kubalska, J., Ciara, E., Krumina, Z., Sykut-Cegielska, J., Pronicka, E.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Journal Article
Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise
Verma, I C, El-Beshlawy, A, Tylki-Szymańska, A, Martins, A, Duan, Y-L, Collin-Histed, T, van der Linde, M Schoneveld, Mansour, R, Dũng, V C, Mistry, Pramod K
Published in Orphanet journal of rare diseases (04.04.2022)
Published in Orphanet journal of rare diseases (04.04.2022)
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Journal Article
Osteoimmunology in mucopolysaccharidoses type I, II, VI and VII. Immunological regulation of the osteoarticular system in the course of metabolic inflammation
Opoka-Winiarska, V, Jurecka, A, Emeryk, A, Tylki-Szymańska, A
Published in Osteoarthritis and cartilage (01.12.2013)
Published in Osteoarthritis and cartilage (01.12.2013)
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Journal Article
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting
Vaccaro, Anna M., Motta, Marialetizia, Tatti, Massimo, Scarpa, Susanna, Masuelli, Laura, Bhat, Meenakshi, Vanier, Marie T., Tylki-Szymanska, Anna, Salvioli, Rosa
Published in Human molecular genetics (01.08.2010)
Published in Human molecular genetics (01.08.2010)
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Journal Article
PO-0096 Clinical Effectiveness Of Idursulfase In Boys Aged 0–5 Years With Hunter Syndrome: 3-year Data From The Hunter Outcome Survey
Muenzer, J, Giugliani, R, Scarpa, M, Tanaka, A, Anna Tylki-Szymanska, A, Morin, I, Beck, M
Published in Archives of disease in childhood (01.10.2014)
Published in Archives of disease in childhood (01.10.2014)
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Journal Article
The Impact of a Ketogenic Diet and Liver Dysfunction on Serum Very Long-Chain Fatty Acids Levels
Stradomska, T. J., Bachański, M., Pawłowska, J., Syczewska, M., Stolarczyk, A., Tylki-Szymańska, A.
Published in Lipids (01.04.2013)
Published in Lipids (01.04.2013)
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Journal Article
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype
Rauschka, H, Colsch, B, Baumann, N, Wevers, R, Schmidbauer, M, Krammer, M, Turpin, J-C, Lefevre, M, Olivier, C, Tardieu, S, Krivit, W, Moser, H, Moser, A, Gieselmann, V, Zalc, B, Cox, T, Reuner, U, Tylki-Szymanska, A, Aboul-Enein, F, LeGuern, E, Bernheimer, H, Berger, J
Published in Neurology (12.09.2006)
Published in Neurology (12.09.2006)
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Journal Article
Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy
Stradomska, T J, Kubalska, J, Janas, R, Tylki-Szymańska, A
Published in European journal of endocrinology (01.02.2012)
Published in European journal of endocrinology (01.02.2012)
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Journal Article
Non-neuronopathic Gaucher disease due to saposin C deficiency
Tylki-Szymańska, A, Czartoryska, B, Vanier, M-T, Poorthuis, BJMH, Groener, JAE, Ługowska, A, Millat, G, Vaccaro, AM, Jurkiewicz, E
Published in Clinical genetics (01.12.2007)
Published in Clinical genetics (01.12.2007)
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