Stȩpień, Karolina M.

Top Publications

Top Publications Authored or Co-Authored by "Stȩpień, Karolina M."

• Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 64
• Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years

  Molecular Genetics and Metabolism, Volume 117, No. 4, Year 2016, Citations 44
• Transition of patients with mucopolysaccharidosis from paediatric to adult care

  Molecular Genetics and Metabolism Reports, Volume 21, Article 100508, Year 2019, Citations 18
• Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

  Orphanet Journal of Rare Diseases, Volume 15, No. 1, Article 114, Year 2020, Citations 9
• Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

  Molecular Genetics and Metabolism Reports, Volume 25, Article 100646, Year 2020, Citations 7