9 results on '"Stepien, Karolina M."'
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2. Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel
3. One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN
4. Galactose epimerase deficiency: lessons from the GalNet registry
5. Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England
6. Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)
7. The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
8. Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation
9. Urinary steroid metabolites in a case of florid Ectopic Cushing’s syndrome and clinical correlations
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