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

by Karolina M. Stepien, Chris J. Hendriksz
Published 2017-12-01

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

by Karolina M. Stepien, Elżbieta Ciara, Aleksandra Jezela-Stanek
Published 2020-11-01

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

by Aleksandra Jezela-Stanek, Elżbieta Ciara, Karolina M. Stepien
Published 2020-06-01

The factors affecting lipid profile in adult patients with Mucopolysaccharidosis

by Karolina M. Stepien, Fiona J. Stewart, Chris J. Hendriksz
Published 2017-09-01

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

by Jonathan Niranjan Rajan, Katharine Ireland, Richard Johnson, Karolina M. Stepien
Published 2021-09-01

GM1 Gangliosidosis—A Mini-Review

by Elena-Raluca Nicoli, Ida Annunziata, Alessandra d’Azzo, Alessandra d’Azzo, Frances M. Platt, Cynthia J. Tifft, Cynthia J. Tifft, Karolina M. Stepien, Karolina M. Stepien
Published 2021-09-01

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

by Chaitanya Gadepalli, Karolina M. Stepien, Reena Sharma, Ana Jovanovic, Govind Tol, Andrew Bentley
Published 2021-07-01

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

by Karolina M. Stepien, Peter Prinsloo, Tony Hitch, Thomas A. McCulloch, Rebecca Sims
Published 2011-01-01

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

by Patryk Lipiński, Karolina M. Stępień, Elżbieta Ciara, Anna Tylki-Szymańska, Aleksandra Jezela-Stanek
Published 2021-08-01

Metallosis mimicking a metabolic disorder: a case report

by Karolina M. Stepien, Zaza Abidin, Graham Lee, Rachel Cullen, Patricia Logan, Gregory M. Pastores
Published 2018-12-01

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

by Kinza Noman, Christian J. Hendriksz, Graham Radcliffe, Federico Roncaroli, Sulleman Moreea, Afifah Hussain, Karolina M. Stepien
Published 2020-12-01

The use of port-a-caths in adult patients with Lysosomal Storage Disorders receiving Enzyme Replacement Therapy-one centre experience

by Mairead McLoughlin, Karolina M. Stepien, Briony McNelly, Lorraine Thompson, Janet Gorton, Christian J. Hendriksz
Published 2017-12-01

Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders

by Karolina M. Stepien, Robert Heaton, Scott Rankin, Alex Murphy, James Bentley, Darren Sexton, Iain P. Hargreaves
Published 2017-07-01

Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

by Karolina M. Stepien, Philomena McCarthy, Eileen P. Treacy, James J. O'Byrne, Gregory M. Pastores
Published 2018-09-01

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

by Karolina M. Stepien, Federico Roncaroli, Nadia Turton, Christian J. Hendriksz, Mark Roberts, Robert A. Heaton, Iain Hargreaves
Published 2020-08-01

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...

by Maureen Cleary, James Davison, Rachel Gould, Tarekegn Geberhiwot, Derralynn Hughes, Jean Mercer, Alexandra Morrison, Elaine Murphy, Saikat Santra, James Jarrett, Swati Mukherjee, Karolina M. Stepien
Published 2021-01-01

Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS)

by Karolina M. Stepien, Anait K. Gevorkyan, Christian J. Hendriksz, Tinatin V. Lobzhanidze, Jordi Pérez-López, Govind Tol, Mireia del Toro Riera, Nato D. Vashakmadze, Christina Lampe
Published 2020-05-01

The natural history of glycogen storage disease type Ib in England: A multisite survey

by Rebecca Halligan, Fiona J. White, Bernd Schwahn, Karolina M. Stepien, Nazreen Kamarus Jaman, Mel McSweeney, Steve Kitchen, Joanna Gribben, Charlotte Dawson, Katherine Lewis, David Cregeen, Helen Mundy, Saikat Santra
Published 2021-05-01

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype

by Stephanie C. M. Nijmeijer, L. Ingeborg van den Born, Anneke J. A. Kievit, Karolina M. Stepien, Janneke Langendonk, Jan Pieter Marchal, Susanne Roosing, Frits A. Wijburg, Margreet A. E. M. Wagenmakers
Published 2019-11-01

Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey

by Karolina M. Stepien, Beata Kieć-Wilk, Beata Kieć-Wilk, Christina Lampe, Trine Tangeraas, Graziella Cefalo, Nadia Belmatoug, Rita Francisco, Mireia del Toro, Leona Wagner, Anne-Grethe Lauridsen, Anne-Grethe Lauridsen, Sylvia Sestini, Nathalie Weinhold, Andreas Hahn, Chiara Montanari, Valentina Rovelli, Cinzia M. Bellettato, Laura Paneghetti, Corine van Lingen, Maurizio Scarpa
Published 2021-02-01