10 results on '"Tylki-Szymanska, Anna"'
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2. Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study
3. The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis
4. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
5. Clinical and molecular characteristics of two transaldolase-deficient patients
6. Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
7. Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature
8. Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
9. Serum hyaluronidase aberrations in metabolic and morphogenetic disorders
10. Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II
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