Zobrazeno 1 - 10
of 355
pro vyhledávání: '"Paul J. Orchard"'
Autor:
Crystal Chang, B.S., Ashish O. Gupta, M.B.B.S., M.P.H., Paul J. Orchard, M.D., David R. Nascene, M.D., Janell Kierstein, M.S., Rebecca K. Tryon, M.S., M.A., Troy C. Lund, M.D., Ph.D.
Publikováno v:
F&S Reports, Vol 4, Iss 1, Pp 24-28 (2023)
Objective: To report 3 cases of adrenoleukodystrophy (ALD) in children conceived by in vitro fertilization (IVF) and egg donation. Design: A case report. Patient(s): Patients aged 4–5 years old, evaluated by the University of Minnesota Leukodystrop
Externí odkaz:
https://doaj.org/article/e07cab7d554b4859a4d78481f45a06bf
Autor:
Leyla A. Taghizadeh, Carina J. King, David R. Nascene, Ashish O. Gupta, Paul J. Orchard, LeeAnn Higgins, Todd W. Markowski, Erin E. Nolan, Justin W. Furcich, Troy C. Lund
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-6 (2022)
Abstract Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disease caused by a mutation in the ABCD1 gene, producing mutations in the very long chain fatty acid transporter, ALD protein. Cerebral ALD (cALD) is a severe phenotype of ALD with neuro
Externí odkaz:
https://doaj.org/article/f9c982607cdd4eb39515da7f092cdd6b
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:
Andrew Nguyen, Weston P. Miller, Ashish Gupta, Troy C. Lund, Daniel Schiferl, Lok Sze Kelvin Lam, Zorayr Arzumanyan, Paul J. Orchard, Lynda E. Polgreen
Publikováno v:
JBMR Plus, Vol 6, Iss 3, Pp n/a-n/a (2022)
ABSTRACT The only treatment currently available for patients with severe infantile osteopetrosis is hematopoietic cell transplantation (HCT). HCT‐related toxicity and mortality risks typically preclude its use in non‐infantile patients, and other
Externí odkaz:
https://doaj.org/article/3621e192c61144618d8a94a7300c2782
Autor:
Ashish Gupta, Paul J. Orchard, Weston P. Miller, Dave R. Nascene, Gerald V. Raymond, Daniel J. Loes, David H. McKenna, Troy C. Lund
Publikováno v:
Stem Cells Translational Medicine, Vol 9, Iss 5, Pp 554-558 (2020)
Abstract Cerebral adrenoleukodystrophy is an inflammatory demyelinating condition that is the result of a mutation in the X‐linked ABCD1 gene, a peroxisomal very long chain fatty acid transporter. Although mutations in this gene result in adrenal i
Externí odkaz:
https://doaj.org/article/e6f06e59a3d9464080cc37608828ff40
Autor:
Lalitha R. Belur, Megan Romero, Junggu Lee, Kelly M. Podetz-Pedersen, Zhenhong Nan, Maureen S. Riedl, Lucy Vulchanova, Kelley F. Kitto, Carolyn A. Fairbanks, Karen F. Kozarsky, Paul J. Orchard, William H. Frey, Walter C. Low, R. Scott McIvor
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Mucopolysaccharidosis type I (MPS I) is an inherited metabolic disorder caused by deficiency of the lysosomal enzyme alpha-L-iduronidase (IDUA). The two current treatments [hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy
Externí odkaz:
https://doaj.org/article/612b20e3a1914626b04655208aae2b85
Autor:
Nelli Bejanyan, Soyoung Kim, Kyle M. Hebert, Natasha Kekre, Hisham Abdel-Azim, Ibrahim Ahmed, Mahmoud Aljurf, Sherif M. Badawy, Amer Beitinjaneh, Jaap Jan Boelens, Miguel Angel Diaz, Christopher C. Dvorak, Shahinaz Gadalla, James Gajewski, Robert Peter Gale, Siddhartha Ganguly, Andrew R. Gennery, Biju George, Usama Gergis, David Gómez-Almaguer, Marta Gonzalez Vicent, Hasan Hashem, Rammurti T. Kamble, Kimberly A. Kasow, Hillard M. Lazarus, Vikram Mathews, Paul J. Orchard, Michael Pulsipher, Olle Ringden, Kirk Schultz, Pierre Teira, Ann E. Woolfrey, Blachy Dávila Saldaña, Bipin Savani, Jacek Winiarski, Jean Yared, Daniel J. Weisdorf, Joseph H. Antin, Mary Eapen
Publikováno v:
Blood Advances, Vol 3, Iss 20, Pp 3123-3131 (2019)
Abstract: Allogeneic bone marrow transplantation (BMT) is curative therapy for the treatment of patients with severe aplastic anemia (SAA). However, several conditioning regimens can be used for BMT. We evaluated transplant conditioning regimens for
Externí odkaz:
https://doaj.org/article/5355366127ff44c8b0ec931af3a7f734
Autor:
Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-25 (2019)
Abstract Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation o
Externí odkaz:
https://doaj.org/article/07788539a8b74b2fa1444bee0867e560
Autor:
Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-21 (2019)
Abstract Introduction Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressi
Externí odkaz:
https://doaj.org/article/4b4cdd98c75840e4a9c116d9983d5417