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

بواسطة Stepien, Karolina M., Hendriksz, Chris J.
الحاوية / القاعدة Mol Genet Metab Rep (2017)

Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia

بواسطة Ng, Sze May, Stepien, Karolina M, Krishan, Ashma
الحاوية / القاعدة Cochrane Database Syst Rev (2020)

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

بواسطة Jezela-Stanek, Aleksandra, Ciara, Elżbieta, Stepien, Karolina M.
الحاوية / القاعدة Int J Mol Sci (2020)

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

بواسطة Stepien, Karolina M., Ciara, Elżbieta, Jezela-Stanek, Aleksandra
الحاوية / القاعدة Genes (Basel) (2020)

The factors affecting lipid profile in adult patients with Mucopolysaccharidosis

بواسطة Stepien, Karolina M., Stewart, Fiona J., Hendriksz, Chris J.
الحاوية / القاعدة Mol Genet Metab Rep (2017)

Carnitine palmitoyltransferase II deficiency and post-COVID vaccination rhabdomyolysis

بواسطة Tan, Alicia, Stepien, Karolina M, Narayana, Shashi Thej Koppa
الحاوية / القاعدة QJM (2021)

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

بواسطة Stepien, Karolina M., Prinsloo, Peter, Hitch, Tony, McCulloch, Thomas A., Sims, Rebecca
منشور في 2011

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

بواسطة Stepien, Karolina M., Wierzbicki, Anthony S., Poll-The, Bwee T., Waterham, Hans R., Hendriksz, Christian J.
الحاوية / القاعدة JIMD Rep (2016)

Metallosis mimicking a metabolic disorder: a case report

بواسطة Stepien, Karolina M., Abidin, Zaza, Lee, Graham, Cullen, Rachel, Logan, Patricia, Pastores, Gregory M.
الحاوية / القاعدة 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

بواسطة Kennedy Hugh, Smith Tracy, Stepien Karolina M, Kejariwal Deepak, Hughes David A, Sampson Mike J
منشور في 2008-10-01

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

بواسطة Kejariwal, Deepak, Stepien, Karolina M, Smith, Tracy, Kennedy, Hugh, Hughes, David A, Sampson, Mike J
منشور في 2008

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

بواسطة Stepien, Karolina M., Heaton, Robert, Rankin, Scott, Murphy, Alex, Bentley, James, Sexton, Darren, Hargreaves, Iain P.
الحاوية / القاعدة J Clin Med (2017)

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

بواسطة McLoughlin, Mairead, Stepien, Karolina M., McNelly, Briony, Thompson, Lorraine, Gorton, Janet, Hendriksz, Christian J.
الحاوية / القاعدة Mol Genet Metab Rep (2017)

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

بواسطة Stepien, Karolina M., McCarthy, Philomena, Treacy, Eileen P., O'Byrne, James J., Pastores, Gregory M.
الحاوية / القاعدة Mol Genet Metab Rep (2018)

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

بواسطة Noman, Kinza, Hendriksz, Christian J., Radcliffe, Graham, Roncaroli, Federico, Moreea, Sulleman, Hussain, Afifah, Stepien, Karolina M.
الحاوية / القاعدة Mol Genet Metab Rep (2020)

Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review

بواسطة Stepien, Karolina M., Roncaroli, Federico, Turton, Nadia, Hendriksz, Christian J., Roberts, Mark, Heaton, Robert A., Hargreaves, Iain
الحاوية / القاعدة J Clin Med (2020)

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

بواسطة Tridimas, Andreas, Gillett, Godfrey T., Pollard, Sally, Sadasivam, Nandini, Williams, Adrian, Mellor, Kirsty, Catchpole, Anthony, Stepien, Karolina M.
الحاوية / القاعدة JIMD Rep (2020)

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

بواسطة Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.
الحاوية / القاعدة JIMD Rep (2019)

Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1

بواسطة Stepien, Karolina M., Pastores, Gregory M., Hendroff, Una, McCormick, Ciara, Fitzimons, Patricia, Khawaja, Naveed, Borovickova, Ingrid, Treacy, Eileen P.
الحاوية / القاعدة JIMD Rep (2018)

Enzyme replacement therapy for late‐onset Pompe disease

بواسطة Sharma, Reena, Hughes, Derralynn, Ramaswami, Uma, Cole, Duncan, Roberts, Mark, Hendriksz, Christian J, Stepien, Karolina M, Krishan, Ashma, Jahnke, Nikki
الحاوية / القاعدة Cochrane Database Syst Rev (2018)