Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jeanine Jarnes Utz"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 24-27 (2016)
Purpose: In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms)
Externí odkaz:
https://doaj.org/article/c376fe2c5e464f67bd2172fa7fb697cc
Autor:
Yow Ming Wang, Barbara K. Burton, Melissa Hogan, Jeffrey A. Bluestone, Stephen Holland, Anne R. Pariser, Zoheb B. Kazi, Laurie Muldowney, Pranoot Tanpaiboon, Alexandra Freitas, Jeanine Jarnes Utz, Amy S. Rosenberg, Patricia I. Dickson, Laurence A. Turka, Rekha Abichandani, Donna Griebel, Priya S. Kishnani, Jessica J. Lee, Maureen Dewey, Chester B. Whitley, Derek Gavin
Publikováno v:
Molecular genetics and metabolism, vol 117, iss 2
Kishnani, PS; Dickson, PI; Muldowney, L; Lee, JJ; Rosenberg, A; Abichandani, R; et al.(2016). Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction. MOLECULAR GENETICS AND METABOLISM, 117(2), 66-83. doi: 10.1016/j.ymgme.2015.11.001. UCLA: Retrieved from: http://www.escholarship.org/uc/item/59n944ht
Kishnani, PS; Dickson, PI; Muldowney, L; Lee, JJ; Rosenberg, A; Abichandani, R; et al.(2016). Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction. MOLECULAR GENETICS AND METABOLISM, 117(2), 66-83. doi: 10.1016/j.ymgme.2015.11.001. UCLA: Retrieved from: http://www.escholarship.org/uc/item/59n944ht
The US Food and Drug Administration (FDA) and National Organization for Rare Disease (NORD) convened a public workshop titled "Immune Responses to Enzyme Replacement Therapies: Role of Immune Tolerance Induction" to discuss the impact of anti-drug an
Publikováno v:
Molecular Genetics and Metabolism. 117(2):172-178
Purpose Clinical care for patients with rare diseases may be complicated by comorbidities. Administration of medications to treat comorbidities may elicit potentially harmful drug–drug interactions (DDIs). Genetic background may also influence DDI
Publikováno v:
Molecular Genetics and Metabolism. 129:S89
Autor:
Jeanine Jarnes Utz, Kyle Rudser, Paul J. Tuite, James C. Cloyd, Gülin Öz, Usha Mishra, Reena V. Kartha, Marcia R. Terluk, James M. Joers
Publikováno v:
Molecular Genetics and Metabolism. 123:S74-S75
Autor:
Chester B. Whitley, Alicia Kunin-Batson, Lynda E. Polgreen, Richard K. Vehe, Kyle Rudser, Patricia I. Dickson, Jeanine Jarnes Utz
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 75-80 (2017)
Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 75-80 (2017)
Mucopolysaccharidosis I and II are lysosomal storage disorders that, despite treatment with hematopoietic cell transplantation (HCT) and/or enzyme replacement therapy (ERT), continue to cause significant skeletal abnormalities leading to pain, stiffn
Autor:
Lynda E. Polgreen, Jeanine Jarnes Utz, Kyle Rudser, Richard K. Vehe, Patricia I. Dickson, Elsa Shapiro, Chester B. Whitley, Alicia Kunin-Batson
Publikováno v:
Molecular genetics and metabolism. 117(4)
Children and adults with the lysosomal storage diseases mucopolysaccharidosis (MPS) types I, II and VI live shortened lives permeated by chronic pain and physical disability. Current treatments do not alleviate these problems. Thus there is a critica
Publikováno v:
Molecular Genetics and Metabolism. 117:S61-S62
Autor:
Kyle Rudser, Laurie B. Hovde, Usha Mishra, Paul J. Tuite, James C. Cloyd, Gülin Öz, Reena V. Kartha, James M. Joers, Jeanine Jarnes Utz
Publikováno v:
Molecular Genetics and Metabolism. 120:S74