Hormonal Dysfunction in Adult Patients Affected with Inherited Metabolic Disorders

por Stepien, Karolina M.
Publicado 2020

Lipid profile in adult patients with Fabry disease - Ten-year follow up

por Stepien, Karolina M., Hendriksz, Chris J.
Publicado 2017

Unmet Cardiac Clinical Needs in Adult Mucopolysaccharidoses

por Stepien, Karolina M., Braunlin, Elizabeth A.
Publicado 2022

Editorial: Cardiac issues in adults with mucopolysaccharidosis

por Stepien, Karolina M., Braunlin, Elizabeth A.
Publicado 2022

Healthcare Transition in Inherited Metabolic Disorders—Is a Collaborative Approach between US and European Centers Possible?

por Gold, Jessica I., Stepien, Karolina M.
Publicado 2022

Hyo-Mental Angle and Distance: An Important Adjunct in Airway Assessment of Adult Mucopolysaccharidosis

por Gadepalli, Chaitanya, Stepien, Karolina M., Tol, Govind
Publicado 2021

Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

por Jezela-Stanek, Aleksandra, Ciara, Elżbieta, Stepien, Karolina M.
Publicado 2020

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series

por Stepien, Karolina M., Ciara, Elżbieta, Jezela-Stanek, Aleksandra
Publicado 2020

The factors affecting lipid profile in adult patients with Mucopolysaccharidosis

por Stepien, Karolina M., Stewart, Fiona J., Hendriksz, Chris J.
Publicado 2017

Editorial: Inherited Protein Glycosylation Defects in Humans

por Jezela-Stanek, Aleksandra, Stepien, Karolina M., Tylki-Szymanska, Anna
Publicado 2022

Review of Mechanisms, Pharmacological Management, Psychosocial Implications, and Holistic Treatment of Pain in Fabry Disease

por Rajan, Jonathan Niranjan, Ireland, Katharine, Johnson, Richard, Stepien, Karolina M.
Publicado 2021

One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN

por Paneghetti, Laura, Bellettato, Cinzia Maria, Sechi, Annalisa, Stepien, Karolina M., Scarpa, Maurizio
Publicado 2022

Acute Renal Failure, Microangiopathic Haemolytic Anemia, and Secondary Oxalosis in a Young Female Patient

por Stepien, Karolina M., Prinsloo, Peter, Hitch, Tony, McCulloch, Thomas A., Sims, Rebecca
Publicado 2011

Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score

por Gadepalli, Chaitanya, Stepien, Karolina M., Sharma, Reena, Jovanovic, Ana, Tol, Govind, Bentley, Andrew
Publicado 2021

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review

por Lipiński, Patryk, Stępień, Karolina M., Ciara, Elżbieta, Tylki-Szymańska, Anna, Jezela-Stanek, Aleksandra
Publicado 2021

Metallosis mimicking a metabolic disorder: a case report

por Stepien, Karolina M., Abidin, Zaza, Lee, Graham, Cullen, Rachel, Logan, Patricia, Pastores, Gregory M.
Publicado 2018

Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies

por Stepien, Karolina M., Cufflin, Neve, Donald, Aimee, Jones, Simon, Church, Heather, Hargreaves, Iain P.
Publicado 2022

Lack of association of colonic epithelium telomere length and oxidative DNA damage in Type 2 diabetes under good metabolic control

por Kejariwal, Deepak, Stepien, Karolina M, Smith, Tracy, Kennedy, Hugh, Hughes, David A, Sampson, Mike J
Publicado 2008

Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention

por Cross, Benjamin, Stepien, Karolina M., Gadepalli, Chaitanya, Kharabish, Ahmed, Woolfson, Peter, Tol, Govind, Jenkins, Petra
Publicado 2022

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency

por Ibrahim, Majitha Seyed, Gold, Jessica I., Woodall, Alison, Yilmaz, Berna Seker, Gissen, Paul, Stepien, Karolina M.
Publicado 2023