Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Julie B Eisengart"'
Autor:
Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt, Yuji Sato
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-brain barrier, was appro
Externí odkaz:
https://doaj.org/article/3b9646a1ea054cb8a5f75542acdb5f2f
Autor:
Troy C. Lund, Terence M. Doherty, Julie B. Eisengart, Rebecca L. Freese, Kyle D. Rudser, Ellen B. Fung, Bradley S. Miller, Klane K. White, Paul J. Orchard, Chester B. Whitley, Lynda E. Polgreen
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 89-99 (2021)
Abstract Background Orthopedic disease progresses in mucopolysaccharidosis type I (MPS I), even with approved therapies and remains a major factor in persistent suffering and disability. Novel therapies and accurate predictors of response are needed.
Externí odkaz:
https://doaj.org/article/eda272a015ff42afbdfa8b995f7872ed
Autor:
Ashish O. Gupta, Marc C. Patterson, Tim Wood, Julie B. Eisengart, Paul J. Orchard, Troy C. Lund
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100832- (2022)
We report the clinical and laboratory follow-up data of an adolescent female with Type I Sialidosis who underwent bone marrow transplant (BMT). After BMT, plasma and urine biomarkers responded concurrently with engraftment. Neuropsychiatry data showe
Externí odkaz:
https://doaj.org/article/1f5f1f0ee5f441b5b92d7eeba39e7582
Autor:
Nathan Grant, Young Bae Sohn, N. Matthew Ellinwood, Ericka Okenfuss, Bryce A. Mendelsohn, Leslie E. Lynch, Elizabeth A. Braunlin, Paul R. Harmatz, Julie B. Eisengart
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100845- (2022)
Hunter syndrome, or mucopolysaccharidosis (MPS) II, is a rare lysosomal disorder characterized by progressive, multi-system disease. As most symptoms cannot be reversed once established, early detection and treatment prior to the onset of clinical sy
Externí odkaz:
https://doaj.org/article/78f5645476fb4f0580327795b9155c45
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system dysfunction. It is now standardly treated with hem
Externí odkaz:
https://doaj.org/article/bbaed3c8c6b842ffb7a9f6ddf6649ef6
Autor:
Julie B. Eisengart, Jeanine Jarnes, Alia Ahmed, Igor Nestrasil, Richard Ziegler, Kathleen Delaney, Elsa Shapiro, Chester Whitley
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 64-68 (2017)
Mucopolysaccharidosis type I (MPS I) was added to the Recommended Uniform Screening Panel for newborn screening in 2016, highlighting recognition that early treatment of MPS I is critical to stem progressive, irreversible disease manifestations. Enzy
Externí odkaz:
https://doaj.org/article/ab99717d40904bbf906e23646fe9c729
Autor:
Paul J. Orchard, Ashish O. Gupta, Julie B. Eisengart, Lynda E. Polgreen, Laura M. Pollard, Elizabeth Braunlin, Marzia Pasquali, Troy C. Lund
Publikováno v:
Blood Advances. 6:6023-6027
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a2143d35f6710b0c33eb633cca7a0e1
https://doi.org/10.1182/bloodadvances.2022007212
https://doi.org/10.1182/bloodadvances.2022007212
Autor:
Alia Ahmed, Li Ou, Kyle Rudser, Elsa Shapiro, Julie B. Eisengart, Kelly King, Agnes Chen, Patricia Dickson, Chester B. Whitley
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
Previous research has demonstrated the mutation, c.712T>A (p.L238Q) of the gene for α-L- iduronidase (IDUA) in patients with Hurler-Scheie syndrome is relatively severe when paired with a nonsense or deletion or splice-site mutation. This mutation w
Externí odkaz:
https://doaj.org/article/bc36f2cf46694799ac4524d03a265aba
Autor:
Troy C. Lund, Weston P. Miller, Julie B. Eisengart, Katrina Simmons, Laura Pollard, Deborah L. Renaud, David A. Wenger, Marc C. Patterson, Paul J Orchard
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background Deficiency in the enzyme β‐mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood‐onset β‐mannosidase deficiency consists of hypotonia in the newborn period followed by
Externí odkaz:
https://doaj.org/article/e4bb547ade7a47d5adda27a1d8c779c5
Autor:
Christiane S. Hampe, Jacob Wesley, Troy C. Lund, Paul J. Orchard, Lynda E. Polgreen, Julie B. Eisengart, Linda K. McLoon, Sebahattin Cureoglu, Patricia Schachern, R. Scott McIvor
Publikováno v:
Biomolecules, Vol 11, Iss 2, p 189 (2021)
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease, caused by a deficiency of the enzyme alpha-L-iduronidase (IDUA). IDUA catalyzes the degradation of the glycosaminoglycans dermatan and heparan sulfate (DS and HS, respectively). Lack of the
Externí odkaz:
https://doaj.org/article/4f5fba414a974ed4a48d420d272de94a