about
Interaction of AnxA6 with isolated and artificial lipid microdomains; importance of lipid composition and calcium contentAtypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case studyAttenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literatureGenistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidosesIdentification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndromeMutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)Very long-chain fatty acids in Rett syndromeIdentification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndromeAnalysis of voice quality in patients with late-onset Pompe disease.Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.Demonstration of glucose-6-phosphate hydrogen 5 enrichment from deuterated water by transaldolase-mediated exchange alone.Therapeutic goals in the treatment of Gaucher disease.Transaldolase deficiency in two new patients with a relative mild phenotype.Gaucher's disease in Lithuania: its diagnosis and treatment.Nephrological abnormalities in patients with transaldolase deficiency.Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.Clinical and molecular characteristics of two transaldolase-deficient patients.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.Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase).Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.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.Late form of Pompe disease with glycogen storage in peripheral nerves axons.Tyrosinemia type III in an asymptomatic girlOutcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.Aminoacylase 1 deficiency associated with autistic behavior.Management of neuronopathic Gaucher disease: a European consensus.Adenylosuccinate lyase deficiency.Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.Ultrasonographic Features of Hip Joints in Mucopolysaccharidoses Type I and II.Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapyCapturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patientsRecommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease
P50
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P50
description
Polish pediatician
@en
Pools onderzoekster
@nl
polska lekarka, pediatra
@pl
name
Anna Tylki-Szymanska
@ast
Anna Tylki-Szymanska
@es
Anna Tylki-Szymanska
@nl
Anna Tylki-Szymańska
@ca
Anna Tylki-Szymańska
@cs
Anna Tylki-Szymańska
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Anna Tylki-Szymańska
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Anna Tylki-Szymańska
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Anna Tylki-Szymańska
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Anna Tylki-Szymańska
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type
label
Anna Tylki-Szymanska
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Anna Tylki-Szymanska
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Anna Tylki-Szymanska
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Anna Tylki-Szymańska
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Anna Tylki-Szymańska
@cs
Anna Tylki-Szymańska
@en
Anna Tylki-Szymańska
@ga
Anna Tylki-Szymańska
@gl
Anna Tylki-Szymańska
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Anna Tylki-Szymańska
@hsb
altLabel
Anna Józefa Tylki-Szymańska
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Anna Tylki-Szymanska
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prefLabel
Anna Tylki-Szymanska
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Anna Tylki-Szymanska
@es
Anna Tylki-Szymanska
@nl
Anna Tylki-Szymańska
@ca
Anna Tylki-Szymańska
@cs
Anna Tylki-Szymańska
@en
Anna Tylki-Szymańska
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Anna Tylki-Szymańska
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Anna Tylki-Szymańska
@hr
Anna Tylki-Szymańska
@hsb
P214
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55941699700
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P1559
Anna Tylki-Szymańska
@pl
P21
P214
P27
P31
P3124
P496
0000-0002-8935-1768
P7859
viaf-311339184