409 results on '"Tylki-Szymanska, Anna"'
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2. Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment
3. Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study
4. Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis
5. Long-term outcome of patients with alpha-mannosidosis – A single center study
6. Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis
7. Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population
8. Congenital disorders of glycosylation in children – Histopathological and ultrastructural changes in the liver
9. Progressive macrophage accumulation in lysosomal acid lipase deficiency
10. Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
11. Controlled attenuation parameter and liver stiffness measurements using transient elastography by FibroScan in Gaucher disease
12. Plain language summary of a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3
13. Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
14. Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial
15. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease – A systematic literature review by a European panel of experts
16. Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.
17. Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients
18. European expert consensus statement on therapeutic goals in Fabry disease
19. Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes – A statistical insight
20. Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase
21. Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
22. The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
23. Long-term efficacy of velmanase alfa treatment in patients with alpha-mannosidosis: Pooled data from two extension studies (up to 12 years of therapy)
24. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry
25. Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease
26. Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial
27. Can Macrosomia or Large for Gestational Age Be Predictive of Mucopolysaccharidosis Type I, II and VI?
28. Monitoring of dipeptidyl peptidase-IV (DPP-IV) activity in patients with mucopolysaccharidoses types I and II on enzyme replacement therapy — Results of a pilot study
29. Mitochondrial dysfunction in fibroblasts derived from patients with Niemann-Pick type C disease
30. Outcomes of oral biotin treatment in patients with biotinidase deficiency — Twenty years follow-up
31. CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy
32. Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype
33. Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage
34. Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome
35. A Twelve-Year Follow-Up Study on a Case of Early-Onset Parkinsonism Preceding Clinical Manifestation of Gaucher Disease
36. A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4–7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy
37. Resistance to thyroid hormone alpha: molecular, biochemical and physiological approach to diagnosis and therapy
38. Mucopolysaccharidosis type VI: A cardiologist's guide to diagnosis and treatment
39. Choroba Wolmana
40. Choroba spichrzania estrów cholesterolu
41. Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis
42. Effect of rapid cessation of enzyme replacement therapy: A report of 5 cases and a review of the literature
43. Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility
44. Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome)
45. Złośliwa osteopetroza niemowlęca – opis przypadku
46. Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia
47. Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form — No positive effects after 2-years of miglustat therapy
48. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
49. Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey
50. Late form of Pompe disease with glycogen storage in peripheral nerves axons
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