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Tylki-Szymańska, A.
334
results:
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Online (334)
Mediatypes
Articles (Online) (197)
OpenAccess-fulltext (137)
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english (304)
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1
Efficacité à long terme du traitement par velmanase alfa ch..:
Guffon, N.
;
Borgwardt, L.
;
Tylki-Szymańska, A.
...
La Revue de Médecine Interne. 45 (2024) - p. A90-A91 , 2024
Link:
https://doi.org/10.1016/..
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2
Audiological and radiological study of eight polish patient..:
Iwanicka-Pronicka, K.
;
Guzek, A.
;
Sarnecki, J.
.
International Journal of Pediatric Otorhinolaryngology. 169 (2023) - p. 111556 , 2023
Link:
https://doi.org/10.1016/..
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3
Transformative effect of a Humanitarian Program for individ..:
Verma, I. C.
;
El-Beshlawy, A.
;
Tylki-Szymańska, A.
...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
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4
Recognition of alpha-mannosidosis in paediatric and adult p..:
Guffon, N.
;
Tylki-Szymanska, A.
;
Borgwardt, L.
...
Molecular Genetics and Metabolism. 126 (2019) 4 - p. 470-474 , 2019
Link:
https://doi.org/10.1016/..
?
5
Management goals for type 1 Gaucher disease: An expert cons..:
Biegstraaten, M.
;
Cox, T.M.
;
Belmatoug, N.
...
Blood Cells, Molecules, and Diseases. 68 (2018) - p. 203-208 , 2018
Link:
https://doi.org/10.1016/..
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6
Benefit of Sebelipase Alfa in Children and Adults with Lyso..:
Abel, F.
;
Arnoux, J.-B.
;
Kostyleva, M.
...
Journal of Hepatology. 64 (2016) 2 - p. S298-S299 , 2016
Link:
https://doi.org/10.1016/..
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7
Osteoimmunology in mucopolysaccharidoses type I, II, VI and..:
Opoka-Winiarska, V.
;
Jurecka, A.
;
Emeryk, A.
.
Osteoarthritis and Cartilage. 21 (2013) 12 - p. 1813-1823 , 2013
Link:
https://doi.org/10.1016/..
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8
Nephrological abnormalities in patients with transaldolase ..:
Loeffen, Y. G. T.
;
Biebuyck, N.
;
Wamelink, M. M. C.
...
Nephrology Dialysis Transplantation. 27 (2012) 8 - p. 3224-3227 , 2012
Link:
https://doi.org/10.1093/..
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9
P23—New Guidelines for the Evaluation and Management of Fab..:
Tylki-Szymanska, A.
;
Hopkin, R.J.
;
Banikazemi, M.
...
Clinical Therapeutics. 34 (2012) 4 - p. e27 , 2012
Link:
https://doi.org/10.1016/..
?
10
Saposin C mutations in Gaucher disease patients resulting i..:
Vaccaro, A. M.
;
Motta, M.
;
Tatti, M.
...
Human Molecular Genetics. 19 (2010) 15 - p. 2987-2997 , 2010
Link:
https://doi.org/10.1093/..
?
11
Female Hunter syndrome caused by a single mutation and fami..:
Kloska, A
;
Jakóbkiewicz-Banecka, J
;
Tylki-Szymańska, A
..
Clinical Genetics. 80 (2010) 5 - p. 459-465 , 2010
Link:
https://doi.org/10.1111/..
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12
Adrenoleukodystrophy (X-ALD) – changes in serum VLCFA profi..:
Stradomska, T.J.
;
Tylki-Szymańska, A.
European Journal of Paediatric Neurology. 12 (2008) - p. S73-S74 , 2008
Link:
https://doi.org/10.1016/..
?
13
How can we treat lysosomal disorders?:
Tylki-Szymańska, A.
European Journal of Paediatric Neurology. 12 (2008) - p. S24 , 2008
Link:
https://doi.org/10.1016/..
?
14
Diagnosis, characteristics and treatment of patients with a..:
Jurecka, A.
;
Tylki-Szymańska, A.
;
Bogdanska, A.
...
European Journal of Paediatric Neurology. 12 (2008) - p. S64 , 2008
Link:
https://doi.org/10.1016/..
?
15
Metachromatic leukodystrophy – a neurometabolic disorder of..:
Ługowska, A.
;
Tylki-Szymańska, A.
European Journal of Paediatric Neurology. 12 (2008) - p. S14-S15 , 2008
Link:
https://doi.org/10.1016/..
1-15