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

Por Stepien, Karolina M., Hendriksz, Chris J.
Publicado no Mol Genet Metab Rep (2017)

Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia

Por Ng, Sze May, Stepien, Karolina M, Krishan, Ashma
Publicado no Cochrane Database Syst Rev (2020)

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

Por Jezela-Stanek, Aleksandra, Ciara, Elżbieta, Stepien, Karolina M.
Publicado no Int J Mol Sci (2020)

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

Por Stepien, Karolina M., Ciara, Elżbieta, Jezela-Stanek, Aleksandra
Publicado no Genes (Basel) (2020)

The factors affecting lipid profile in adult patients with Mucopolysaccharidosis

Por Stepien, Karolina M., Stewart, Fiona J., Hendriksz, Chris J.
Publicado no Mol Genet Metab Rep (2017)

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 em 2011

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

Por Stepien, Karolina M., Wierzbicki, Anthony S., Poll-The, Bwee T., Waterham, Hans R., Hendriksz, Christian J.
Publicado no JIMD Rep (2016)

Metallosis mimicking a metabolic disorder: a case report

Por Stepien, Karolina M., Abidin, Zaza, Lee, Graham, Cullen, Rachel, Logan, Patricia, Pastores, Gregory M.
Publicado no Mol Genet Metab Rep (2018)

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

Por Kennedy Hugh, Smith Tracy, Stepien Karolina M, Kejariwal Deepak, Hughes David A, Sampson Mike J
Publicado em 2008-10-01

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 em 2008

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

Por Stepien, Karolina M., Heaton, Robert, Rankin, Scott, Murphy, Alex, Bentley, James, Sexton, Darren, Hargreaves, Iain P.
Publicado no J Clin Med (2017)

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

Por McLoughlin, Mairead, Stepien, Karolina M., McNelly, Briony, Thompson, Lorraine, Gorton, Janet, Hendriksz, Christian J.
Publicado no Mol Genet Metab Rep (2017)

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

Por Stepien, Karolina M., McCarthy, Philomena, Treacy, Eileen P., O'Byrne, James J., Pastores, Gregory M.
Publicado no Mol Genet Metab Rep (2018)

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

Por Noman, Kinza, Hendriksz, Christian J., Radcliffe, Graham, Roncaroli, Federico, Moreea, Sulleman, Hussain, Afifah, Stepien, Karolina M.
Publicado no Mol Genet Metab Rep (2020)

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

Por Stepien, Karolina M., Roncaroli, Federico, Turton, Nadia, Hendriksz, Christian J., Roberts, Mark, Heaton, Robert A., Hargreaves, Iain
Publicado no J Clin Med (2020)

Three‐year follow up of using combination therapy with fresh‐frozen plasma and iron chelation in a patient with acaeruloplasminemia

Por Tridimas, Andreas, Gillett, Godfrey T., Pollard, Sally, Sadasivam, Nandini, Williams, Adrian, Mellor, Kirsty, Catchpole, Anthony, Stepien, Karolina M.
Publicado no JIMD Rep (2020)

Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency

Por Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.
Publicado no JIMD Rep (2019)

Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1

Por Stepien, Karolina M., Pastores, Gregory M., Hendroff, Una, McCormick, Ciara, Fitzimons, Patricia, Khawaja, Naveed, Borovickova, Ingrid, Treacy, Eileen P.
Publicado no JIMD Rep (2018)

Enzyme replacement therapy for late‐onset Pompe disease

Por Sharma, Reena, Hughes, Derralynn, Ramaswami, Uma, Cole, Duncan, Roberts, Mark, Hendriksz, Christian J, Stepien, Karolina M, Krishan, Ashma, Jahnke, Nikki
Publicado no Cochrane Database Syst Rev (2018)

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...

Por Cleary, Maureen, Davison, James, Gould, Rachel, Geberhiwot, Tarekegn, Hughes, Derralynn, Mercer, Jean, Morrison, Alexandra, Murphy, Elaine, Santra, Saikat, Jarrett, James, Mukherjee, Swati, Stepien, Karolina M.
Publicado no Orphanet J Rare Dis (2021)