Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Marcia Sellos-Moura"'
1
Akademický článek
Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison
Autor: Marcia Sellos-Moura, Frank Glavin, David Lapidus, Kristin Evans, Carolyn R. Lew, Debra E. Irwin
Publikováno v: BMC Health Services Research, Vol 20, Iss 1, Pp 1-11 (2020)
Abstract Background Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000–200,000 people in the United States (US). HCU is poorly detected by newborn screening
Externí odkaz: https://doaj.org/article/f5fe20203f8945f7ae34b01edef9c114
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2
Akademický článek
Validation of an Immunoassay for Anti-thymidine Phosphorylase Antibodies in Patients with MNGIE Treated with Enzyme Replacement Therapy
Autor: Michelle Levene, Dario Pacitti, Charlotte Gasson, Jamie Hall, Marcia Sellos-Moura, Bridget E. Bax
Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 11, Iss , Pp 1-8 (2018)
Erythrocyte encapsulated thymidine phosphorylase is recombinant Escherichia coli thymidine phosphorylase encapsulated within human autologous erythrocytes and is under development as an enzyme replacement therapy for the ultra-rare inherited metaboli
Externí odkaz: https://doaj.org/article/3f454fa28ac74ca78eedd5841cfa3eb9
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3
Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?
Autor: Kristin A. Evans, Liisa Palmer, Debra E. Irwin, Frank Glavin, Marcia Sellos-Moura, David Lapidus
Publikováno v: Molecular Genetics and Metabolism. 130:36-40
Classical homocystinuria (HCU) is a genetic disorder caused by mutations in the cystathionine beta synthase gene, which results in impaired metabolism of the sulfur-bearing amino acid homocysteine and its accumulation in blood and tissues. Classical
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bbcc9ee2304b8c4377c21df9dfbe1c2
https://doi.org/10.1016/j.ymgme.2020.02.001
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5
Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison
Autor: David Lapidus, Carolyn R. Lew, Kristin A. Evans, Frank Glavin, Marcia Sellos-Moura, Debra E. Irwin
Publikováno v: BMC Health Services Research, Vol 20, Iss 1, Pp 1-11 (2020)
BMC Health Services Research
Background Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000–200,000 people in the United States (US). HCU is poorly detected by newborn screening, resulti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6d8a085b16ccc0102c274d7a1ccd83d
https://doi.org/10.1186/s12913-020-5054-5
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6
Validation of an Immunoassay for Anti-thymidine Phosphorylase Antibodies in Patients with MNGIE Treated with Enzyme Replacement Therapy
Autor: Jamie Hall, Marcia Sellos-Moura, Charlotte Gasson, Bridget E. Bax, Dario Pacitti, Michelle Levene
Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 11, Iss, Pp 1-8 (2018)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy-Methods & Clinical Development
Erythrocyte encapsulated thymidine phosphorylase is recombinant Escherichia coli thymidine phosphorylase encapsulated within human autologous erythrocytes and is under development as an enzyme replacement therapy for the ultra-rare inherited metaboli
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8141c3722618af919879372a46af2995
http://www.sciencedirect.com/science/article/pii/S2329050118300846
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7
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial
Autor: Cornelia Kornblum, Sema Kalkan Uçar, Moshe Baru, Agathe Roubertie, Murray D. Bain, Jeanie Price, Marcia Sellos-Moura, Shamima Rahman, Patrick Horn, Philip Sedgwick, Mauro Scarpelli, Lynette D. Fairbanks, Thomas Klopstock, Massimiliano Filosto, Bridget E. Bax, Hanna Mandel, Michelle Levene, Niranjanan Nirmalananthan
Publikováno v: Journal of Clinical Medicine
Journal of Clinical Medicine 8(8), 1096 (2019). doi:10.3390/jcm8081096
Journal of Clinical Medicine, Vol 8, Iss 8, p 1096 (2019)
Volume 8
Issue 8
WOS: 000483737700026
PubMed ID: 31344955
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder which primarily affects the gastrointestinal and nervous systems. This disease is caused by mutations
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a4ff536c11921c213531b00509b40f
https://hdl.handle.net/11454/28713
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8
Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy
Autor: Andrea M. Corse, Mohamed H. Farah, Norman W. Barton, Christian Krarup, Lotte Risom, Christine í Dali, Mihai Moldovan, Luying Pan, Hongmei Cao, Jan-Eric Månsson, Nitin Nair, Marcia Sellos-Moura, Morten Duno
Publikováno v: Annals of Clinical and Translational Neurology
Objective Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder due to deficient activity of arylsulfatase A (ASA) that causes accumulation of sulfatide and lysosulfatide. The disorder is associated with demyelinatio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bee77f824bd67a3f778419443f41546
http://europepmc.org/articles/PMC4435706
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9
Development of a panel of highly sensitive, equivalent assays for detection of antibody responses to velaglucerase alfa or imiglucerase enzyme replacement therapy in patients with Gaucher disease
Autor: Philip Shi, Luying Pan, Susan Oommen, Judith Durant, S Barzegar, Marcia Sellos-Moura, Juan Ruiz
Publikováno v: Journal of Immunological Methods. 373(1-2):45-53
Anti-drug antibodies are elicited by virtually all therapeutic proteins, and standardized assays are required for clinical monitoring of patients as well as for comparing antibody response to different therapeutic proteins in clinical trials. Velaglu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f40794a3c077841ab1fa43264c2f2d27
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