Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 58 entries
Sorted by: Best Match Show Resources per page
The use of port-a-caths in adult patients with Lysosomal Storage Disorders receiving Enzyme Replacement Therapy-one centre experience.

Molecular genetics and metabolism reports

McLoughlin M, Stepien KM, McNelly B, Thompson L, Gorton J, Hendriksz CJ.
PMID: 29071212
Mol Genet Metab Rep. 2017 Oct 21;13:111-114. doi: 10.1016/j.ymgmr.2017.10.003. eCollection 2017 Dec.

Port-a-cath is a widely used device in patients with long-term venous access demand such as frequent or continuous administration of medications such as Enzyme Replacement Therapy (ERT), chemotherapy delivery, blood transfusions, blood products, and fluids. Patients with Lysosomal Storage...

Cite
McLoughlin M, Stepien KM, McNelly B, et al. The use of port-a-caths in adult patients with Lysosomal Storage Disorders receiving Enzyme Replacement Therapy-one centre experience. Mol Genet Metab Rep. 2017;13:111-114doi: 10.1016/j.ymgmr.2017.10.003.
McLoughlin, M., Stepien, K. M., McNelly, B., Thompson, L., Gorton, J., & Hendriksz, C. J. (2017). The use of port-a-caths in adult patients with Lysosomal Storage Disorders receiving Enzyme Replacement Therapy-one centre experience. Molecular genetics and metabolism reports, 13111-114. https://doi.org/10.1016/j.ymgmr.2017.10.003
McLoughlin, Mairead, et al. "The use of port-a-caths in adult patients with Lysosomal Storage Disorders receiving Enzyme Replacement Therapy-one centre experience." Molecular genetics and metabolism reports vol. 13 (2017): 111-114. doi: https://doi.org/10.1016/j.ymgmr.2017.10.003
McLoughlin M, Stepien KM, McNelly B, Thompson L, Gorton J, Hendriksz CJ. The use of port-a-caths in adult patients with Lysosomal Storage Disorders receiving Enzyme Replacement Therapy-one centre experience. Mol Genet Metab Rep. 2017 Oct 21;13:111-114. doi: 10.1016/j.ymgmr.2017.10.003. eCollection 2017 Dec. PMID: 29071212; PMCID: PMC5651539.
Copy Download .nbib Format: NLM
Metabolic profiling of human peripheral blood mononuclear cells: influence of vitamin d status and gender.

Metabolites

Stepien M, Nugent AP, Brennan L.
PMID: 24957025
Metabolites. 2014 Apr 22;4(2):248-59. doi: 10.3390/metabo4020248.

Metabolic profiling of peripheral blood mononuclear cells (PBMC) could serve as a less invasive and more direct alternative to tissue biopsies or serum in metabolomic research. We conducted two exploratory independent studies in order to characterise PBMC's metabolomic profile...

Cite
Stepien M, Nugent AP, Brennan L. Metabolic profiling of human peripheral blood mononuclear cells: influence of vitamin d status and gender. Metabolites. 2014;4(2):248-59doi: 10.3390/metabo4020248.
Stepien, M., Nugent, A. P., & Brennan, L. (2014). Metabolic profiling of human peripheral blood mononuclear cells: influence of vitamin d status and gender. Metabolites, 4(2), 248-59. https://doi.org/10.3390/metabo4020248
Stepien, Magdalena, et al. "Metabolic profiling of human peripheral blood mononuclear cells: influence of vitamin d status and gender." Metabolites vol. 4,2 (2014): 248-59. doi: https://doi.org/10.3390/metabo4020248
Stepien M, Nugent AP, Brennan L. Metabolic profiling of human peripheral blood mononuclear cells: influence of vitamin d status and gender. Metabolites. 2014 Apr 22;4(2):248-59. doi: 10.3390/metabo4020248. PMID: 24957025; PMCID: PMC4101505.
Copy Download .nbib Format: NLM
Acute renal failure, microangiopathic haemolytic anemia, and secondary oxalosis in a young female patient.

International journal of nephrology

Stepien KM, Prinsloo P, Hitch T, McCulloch TA, Sims R.
PMID: 21785726
Int J Nephrol. 2011;2011:679160. doi: 10.4061/2011/679160. Epub 2011 Jul 19.

A 29-year old female presented with a one-week history of vomiting, diarrhoea, abdominal pain, and headache. On admission, she had acute renal failure requiring dialysis. Tests revealed a hemolytic anemia with thrombocytopenia. An initial diagnosis of thrombotic thrombocytopenic microangiopathy...

Cite
Stepien KM, Prinsloo P, Hitch T, et al. Acute renal failure, microangiopathic haemolytic anemia, and secondary oxalosis in a young female patient. Int J Nephrol. 2011;2011:679160doi: 10.4061/2011/679160.
Stepien, K. M., Prinsloo, P., Hitch, T., McCulloch, T. A., & Sims, R. (2011). Acute renal failure, microangiopathic haemolytic anemia, and secondary oxalosis in a young female patient. International journal of nephrology, 2011679160. https://doi.org/10.4061/2011/679160
Stepien, Karolina M, et al. "Acute renal failure, microangiopathic haemolytic anemia, and secondary oxalosis in a young female patient." International journal of nephrology vol. 2011 (2011): 679160. doi: https://doi.org/10.4061/2011/679160
Stepien KM, Prinsloo P, Hitch T, McCulloch TA, Sims R. Acute renal failure, microangiopathic haemolytic anemia, and secondary oxalosis in a young female patient. Int J Nephrol. 2011;2011:679160. doi: 10.4061/2011/679160. Epub 2011 Jul 19. PMID: 21785726; PMCID: PMC3140202.
Copy Download .nbib Format: NLM
Metallosis mimicking a metabolic disorder: a case report.

Molecular genetics and metabolism reports

Stepien KM, Abidin Z, Lee G, Cullen R, Logan P, Pastores GM.
PMID: 30271721
Mol Genet Metab Rep. 2018 Sep 25;17:38-41. doi: 10.1016/j.ymgmr.2018.09.005. eCollection 2018 Dec.

Metalic prosthesis or occupational exposure are potential sources of systemic cobalt and chromium ion toxicity. The resultant multisystemic clinical presentation can lead to unnecessary investigations before a final etiologic diagnosis is made; with an average delay of a year...

Cite
Stepien KM, Abidin Z, Lee G, et al. Metallosis mimicking a metabolic disorder: a case report. Mol Genet Metab Rep. 2018;17:38-41doi: 10.1016/j.ymgmr.2018.09.005.
Stepien, K. M., Abidin, Z., Lee, G., Cullen, R., Logan, P., & Pastores, G. M. (2018). Metallosis mimicking a metabolic disorder: a case report. Molecular genetics and metabolism reports, 1738-41. https://doi.org/10.1016/j.ymgmr.2018.09.005
Stepien, Karolina M, et al. "Metallosis mimicking a metabolic disorder: a case report." Molecular genetics and metabolism reports vol. 17 (2018): 38-41. doi: https://doi.org/10.1016/j.ymgmr.2018.09.005
Stepien KM, Abidin Z, Lee G, Cullen R, Logan P, Pastores GM. Metallosis mimicking a metabolic disorder: a case report. Mol Genet Metab Rep. 2018 Sep 25;17:38-41. doi: 10.1016/j.ymgmr.2018.09.005. eCollection 2018 Dec. PMID: 30271721; PMCID: PMC6159344.
Copy Download .nbib Format: NLM
Lipid profile in adult patients with Fabry disease - Ten-year follow up.

Molecular genetics and metabolism reports

Stepien KM, Hendriksz CJ.
PMID: 28736719
Mol Genet Metab Rep. 2017 Jul 13;13:3-6. doi: 10.1016/j.ymgmr.2017.06.010. eCollection 2017 Dec.

BACKGROUND: Fabry disease, an X-linked genetic condition, results from alpha-galactosidase deficiency and increased accumulation of glycosphingolipids in cardiovascular tissues. Clinical manifestation includes vasculature associated complications. Hyperlipidaemia is one of the cardiovascular risk factors however it has never been well...

Cite
Stepien KM, Hendriksz CJ. Lipid profile in adult patients with Fabry disease - Ten-year follow up. Mol Genet Metab Rep. 2017;13:3-6doi: 10.1016/j.ymgmr.2017.06.010.
Stepien, K. M., & Hendriksz, C. J. (2017). Lipid profile in adult patients with Fabry disease - Ten-year follow up. Molecular genetics and metabolism reports, 133-6. https://doi.org/10.1016/j.ymgmr.2017.06.010
Stepien, Karolina M, and Hendriksz, Chris J. "Lipid profile in adult patients with Fabry disease - Ten-year follow up." Molecular genetics and metabolism reports vol. 13 (2017): 3-6. doi: https://doi.org/10.1016/j.ymgmr.2017.06.010
Stepien KM, Hendriksz CJ. Lipid profile in adult patients with Fabry disease - Ten-year follow up. Mol Genet Metab Rep. 2017 Jul 13;13:3-6. doi: 10.1016/j.ymgmr.2017.06.010. eCollection 2017 Dec. PMID: 28736719; PMCID: PMC5510531.
Copy Download .nbib Format: NLM
Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with acaeruloplasminemia.

JIMD reports

Tridimas A, Gillett GT, Pollard S, Sadasivam N, Williams A, Mellor K, Catchpole A, Stepien KM.
PMID: 33473336
JIMD Rep. 2020 Oct 26;57(1):23-28. doi: 10.1002/jmd2.12176. eCollection 2021 Jan.

Acaeruloplasminemia is a rare autosomal recessive condition caused by inactivating mutations of the

Cite
Tridimas A, Gillett GT, Pollard S, et al. Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with acaeruloplasminemia. JIMD Rep. 2020;57(1):23-28doi: 10.1002/jmd2.12176.
Tridimas, A., Gillett, G. T., Pollard, S., Sadasivam, N., Williams, A., Mellor, K., Catchpole, A., & Stepien, K. M. (2021). Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with acaeruloplasminemia. JIMD reports, 57(1), 23-28. https://doi.org/10.1002/jmd2.12176
Tridimas, Andreas, et al. "Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with acaeruloplasminemia." JIMD reports vol. 57,1 (2021): 23-28. doi: https://doi.org/10.1002/jmd2.12176
Tridimas A, Gillett GT, Pollard S, Sadasivam N, Williams A, Mellor K, Catchpole A, Stepien KM. Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with acaeruloplasminemia. JIMD Rep. 2020 Oct 26;57(1):23-28. doi: 10.1002/jmd2.12176. eCollection 2021 Jan. PMID: 33473336; PMCID: PMC7802632.
Copy Download .nbib Format: NLM
Transition of patients with mucopolysaccharidosis from paediatric to adult care.

Molecular genetics and metabolism reports

Lampe C, McNelly B, Gevorkian AK, Hendriksz CJ, Lobzhanidze TV, Pérez-López J, Stepien KM, Vashakmadze ND, Del Toro M.
PMID: 31687335
Mol Genet Metab Rep. 2019 Oct 21;21:100508. doi: 10.1016/j.ymgmr.2019.100508. eCollection 2019 Dec.

Mucopolysaccharidoses (MPS) are rare disorders associated with enzyme deficiencies, resulting in glycosaminoglycan (GAG) accumulation in multiple organ systems. As patients increasingly survive to adulthood, the need for a smooth transition into adult care is essential. Using case studies, we...

Cite
Lampe C, McNelly B, Gevorkian AK, et al. Transition of patients with mucopolysaccharidosis from paediatric to adult care. Mol Genet Metab Rep. 2019;21:100508doi: 10.1016/j.ymgmr.2019.100508.
Lampe, C., McNelly, B., Gevorkian, A. K., Hendriksz, C. J., Lobzhanidze, T. V., Pérez-López, J., Stepien, K. M., Vashakmadze, N. D., & Del Toro, M. (2019). Transition of patients with mucopolysaccharidosis from paediatric to adult care. Molecular genetics and metabolism reports, 21100508. https://doi.org/10.1016/j.ymgmr.2019.100508
Lampe, C, et al. "Transition of patients with mucopolysaccharidosis from paediatric to adult care." Molecular genetics and metabolism reports vol. 21 (2019): 100508. doi: https://doi.org/10.1016/j.ymgmr.2019.100508
Lampe C, McNelly B, Gevorkian AK, Hendriksz CJ, Lobzhanidze TV, Pérez-López J, Stepien KM, Vashakmadze ND, Del Toro M. Transition of patients with mucopolysaccharidosis from paediatric to adult care. Mol Genet Metab Rep. 2019 Oct 21;21:100508. doi: 10.1016/j.ymgmr.2019.100508. eCollection 2019 Dec. PMID: 31687335; PMCID: PMC6819742.
Copy Download .nbib Format: NLM
Cerebrospinal Fluid Penetration and Combination Therapy of Entrectinib for Disseminated .

Journal of personalized medicine

Mayr L, Guntner AS, Madlener S, Schmook MT, Peyrl A, Azizi AA, Dieckmann K, Reisinger D, Stepien NM, Schramm K, Laemmerer A, Jones DTW, Ecker J, Sahm F, Milde T, Pajtler KW, Blattner-Johnson M, Strbac M, Dorfer C, Czech T, Kirchhofer D, Gabler L, Berger W, Haberler C, Müllauer L, Buchberger W, Slavc I, Lötsch-Gojo D, Gojo J.
PMID: 33353026
J Pers Med. 2020 Dec 18;10(4). doi: 10.3390/jpm10040290.

Targeting oncogenic fusion-genes in pediatric high-grade gliomas (pHGG) with entrectinib has emerged as a highly promising therapeutic approach. Despite ongoing clinical studies, to date, no reports on the treatment of cerebrospinal fluid (CSF) disseminated fusion-positive pHGG exist. Moreover, clinically...

Cite
Mayr L, Guntner AS, Madlener S, et al. Cerebrospinal Fluid Penetration and Combination Therapy of Entrectinib for Disseminated . J Pers Med. 2020;10(4)doi: 10.3390/jpm10040290.
Mayr, L., Guntner, A. S., Madlener, S., Schmook, M. T., Peyrl, A., Azizi, A. A., Dieckmann, K., Reisinger, D., Stepien, N. M., Schramm, K., Laemmerer, A., Jones, D. T. W., Ecker, J., Sahm, F., Milde, T., Pajtler, K. W., Blattner-Johnson, M., Strbac, M., Dorfer, C., Czech, T., Kirchhofer, D., Gabler, L., Berger, W., Haberler, C., Müllauer, L., Buchberger, W., Slavc, I., Lötsch-Gojo, D., & Gojo, J. (2020). Cerebrospinal Fluid Penetration and Combination Therapy of Entrectinib for Disseminated . Journal of personalized medicine, 10(4), . https://doi.org/10.3390/jpm10040290
Mayr, Lisa, et al. "Cerebrospinal Fluid Penetration and Combination Therapy of Entrectinib for Disseminated ." Journal of personalized medicine vol. 10,4 (2020). doi: https://doi.org/10.3390/jpm10040290
Mayr L, Guntner AS, Madlener S, Schmook MT, Peyrl A, Azizi AA, Dieckmann K, Reisinger D, Stepien NM, Schramm K, Laemmerer A, Jones DTW, Ecker J, Sahm F, Milde T, Pajtler KW, Blattner-Johnson M, Strbac M, Dorfer C, Czech T, Kirchhofer D, Gabler L, Berger W, Haberler C, Müllauer L, Buchberger W, Slavc I, Lötsch-Gojo D, Gojo J. Cerebrospinal Fluid Penetration and Combination Therapy of Entrectinib for Disseminated . J Pers Med. 2020 Dec 18;10(4). doi: 10.3390/jpm10040290. PMID: 33353026; PMCID: PMC7766483.
Copy Download .nbib Format: NLM
Potential Importance of Early Focal Radiotherapy Following Gross Total Resection for Long-Term Survival in Children With Embryonal Tumors With Multilayered Rosettes.

Frontiers in oncology

Mayr L, Gojo J, Peyrl A, Azizi AA, Stepien NM, Pletschko T, Czech T, Dorfer C, Lambo S, Dieckmann K, Haberler C, Kool M, Slavc I.
PMID: 33392079
Front Oncol. 2020 Dec 17;10:584681. doi: 10.3389/fonc.2020.584681. eCollection 2020.

Embryonal tumor with multilayered rosettes (ETMR) is a rare, aggressive embryonal central nervous system tumor characterized by LIN28A expression and alterations in the

Cite
Mayr L, Gojo J, Peyrl A, et al. Potential Importance of Early Focal Radiotherapy Following Gross Total Resection for Long-Term Survival in Children With Embryonal Tumors With Multilayered Rosettes. Front Oncol. 2020;10:584681doi: 10.3389/fonc.2020.584681.
Mayr, L., Gojo, J., Peyrl, A., Azizi, A. A., Stepien, N. M., Pletschko, T., Czech, T., Dorfer, C., Lambo, S., Dieckmann, K., Haberler, C., Kool, M., & Slavc, I. (2020). Potential Importance of Early Focal Radiotherapy Following Gross Total Resection for Long-Term Survival in Children With Embryonal Tumors With Multilayered Rosettes. Frontiers in oncology, 10584681. https://doi.org/10.3389/fonc.2020.584681
Mayr, Lisa, et al. "Potential Importance of Early Focal Radiotherapy Following Gross Total Resection for Long-Term Survival in Children With Embryonal Tumors With Multilayered Rosettes." Frontiers in oncology vol. 10 (2020): 584681. doi: https://doi.org/10.3389/fonc.2020.584681
Mayr L, Gojo J, Peyrl A, Azizi AA, Stepien NM, Pletschko T, Czech T, Dorfer C, Lambo S, Dieckmann K, Haberler C, Kool M, Slavc I. Potential Importance of Early Focal Radiotherapy Following Gross Total Resection for Long-Term Survival in Children With Embryonal Tumors With Multilayered Rosettes. Front Oncol. 2020 Dec 17;10:584681. doi: 10.3389/fonc.2020.584681. eCollection 2020. PMID: 33392079; PMCID: PMC7773839.
Copy Download .nbib Format: NLM
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.

Journal of inherited metabolic disease

Marelli C, Lavigne C, Stepien KM, Janssen MCH, Feillet F, Kožich V, Jesina P, Schule R, Kessler C, Redonnet-Vernhet I, Regnier A, Burda P, Baumgartner M, Benoist JF, Huemer M, Mochel F.
PMID: 33089527
J Inherit Metab Dis. 2021 May;44(3):777-786. doi: 10.1002/jimd.12323. Epub 2020 Nov 02.

5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency usually presents as a severe neonatal disease. This study aimed to characterize natural history, biological and molecular data, and response to treatment of patients with late-onset MTHFR deficiency. The patients were identified through the European...

Cite
Marelli C, Lavigne C, Stepien KM, et al. Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency. J Inherit Metab Dis. 2020;44(3):777-786doi: 10.1002/jimd.12323.
Marelli, C., Lavigne, C., Stepien, K. M., Janssen, M. C. H., Feillet, F., Kožich, V., Jesina, P., Schule, R., Kessler, C., Redonnet-Vernhet, I., Regnier, A., Burda, P., Baumgartner, M., Benoist, J. F., Huemer, M., Mochel, F. (2021). Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency. Journal of inherited metabolic disease, 44(3), 777-786. https://doi.org/10.1002/jimd.12323
Marelli, Cecilia, et al. "Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency." Journal of inherited metabolic disease vol. 44,3 (2021): 777-786. doi: https://doi.org/10.1002/jimd.12323
Marelli C, Lavigne C, Stepien KM, Janssen MCH, Feillet F, Kožich V, Jesina P, Schule R, Kessler C, Redonnet-Vernhet I, Regnier A, Burda P, Baumgartner M, Benoist JF, Huemer M, Mochel F. Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency. J Inherit Metab Dis. 2021 May;44(3):777-786. doi: 10.1002/jimd.12323. Epub 2020 Nov 02. PMID: 33089527.
Copy Download .nbib Format: NLM
[No title available]

Frontiers in plant science

Golisz A, Krzyszton M, Stepien M, Dolata J, Piotrowska J, Szweykowska-Kulinska Z, Jarmolowski A, Kufel J.
PMID: 34925413
Front Plant Sci. 2021 Dec 03;12:765003. doi: 10.3389/fpls.2021.765003. eCollection 2021.

SmD3 is a core component of the small nuclear ribonucleoprotein (snRNP) that is essential for pre-mRNA splicing. The role of

Cite
Golisz A, Krzyszton M, Stepien M, et al. . Front Plant Sci. 2021;12:765003doi: 10.3389/fpls.2021.765003.
Golisz, A., Krzyszton, M., Stepien, M., Dolata, J., Piotrowska, J., Szweykowska-Kulinska, Z., Jarmolowski, A., & Kufel, J. (2021). . Frontiers in plant science, 12765003. https://doi.org/10.3389/fpls.2021.765003
Golisz, Anna, et al. "." Frontiers in plant science vol. 12 (2021): 765003. doi: https://doi.org/10.3389/fpls.2021.765003
Golisz A, Krzyszton M, Stepien M, Dolata J, Piotrowska J, Szweykowska-Kulinska Z, Jarmolowski A, Kufel J. . Front Plant Sci. 2021 Dec 03;12:765003. doi: 10.3389/fpls.2021.765003. eCollection 2021. PMID: 34925413; PMCID: PMC8678131.
Copy Download .nbib Format: NLM
In memoriam. Dr. Rudolf Schindler.

Gastrointestinal endoscopy

Dagradi AE, Stempien SJ.
PMID: 4881350
Gastrointest Endosc. 1968 Nov;15(2):121-2.

No abstract available.

Cite
Dagradi AE, Stempien SJ. In memoriam. Dr. Rudolf Schindler. Gastrointest Endosc. 1968;15(2):121-2
Dagradi, A. E., & Stempien, S. J. (1968). In memoriam. Dr. Rudolf Schindler. Gastrointestinal endoscopy, 15(2), 121-2.
Dagradi, A E, and Stempien, S J. "In memoriam. Dr. Rudolf Schindler." Gastrointestinal endoscopy vol. 15,2 (1968): 121-2.
Dagradi AE, Stempien SJ. In memoriam. Dr. Rudolf Schindler. Gastrointest Endosc. 1968 Nov;15(2):121-2. PMID: 4881350.
Copy Download .nbib Format: NLM
Showing 1 to 12 of 58 entries