Zobrazeno 1 - 10
of 119
pro vyhledávání: '"Weston P Miller"'
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:
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:
Julie B. Eisengart, David Nascene, Daniel L. Kenney-Jung, Elizabeth I. Pierpont, Troy C. Lund, Paul J. Orchard, Ryan Shanley, Ashish Gupta, Weston P. Miller, Richard S. Ziegler
Publikováno v:
Neurology
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveTo quantify benchmark treatment outcomes that may be enabled by newborn screening surveillance for X-linked adrenoleukodystrophy (ALD), we report neurocognitive, neuropsychiatric, and MRI change for boys who underwent hematopoietic stem cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8f864daadece3cf452b91bce6e14d7e
https://doi.org/10.1212/wnl.0000000000009929
https://doi.org/10.1212/wnl.0000000000009929
Autor:
Troy C. Lund, Daniel J. Loes, Ashish Gupta, Gerald V. Raymond, Dave R. Nascene, Paul J. Orchard, David H. McKenna, Weston P. Miller
Publikováno v:
Stem Cells Translational Medicine
Stem Cells Translational Medicine, Vol 9, Iss 5, Pp 554-558 (2020)
Stem Cells Translational Medicine, Vol 9, Iss 5, Pp 554-558 (2020)
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 insufficie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c396950a2594c80f303c6f5e2cd49a
http://europepmc.org/articles/PMC7180290
http://europepmc.org/articles/PMC7180290
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. 6(3)
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 therapies ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c544002072a3d078b51645f589d69318
https://pubmed.ncbi.nlm.nih.gov/35309862
https://pubmed.ncbi.nlm.nih.gov/35309862
Autor:
Holly Winslow, Weston P. Miller, Ashish Gupta, Daniel L. Kenney-Jung, Gerald Raymond, Heather Zierhut, Susan A. Berry, Amy Hietala, Troy C. Lund, Paul J. Orchard, Hyoung Gwon Choi, Elizabeth I. Pierpont, Katie Wiens, Amy Gaviglio
Publikováno v:
American Journal of Medical Genetics. Part a
Minnesota became the fourth state to begin newborn screening (NBS) for X‐linked adrenoleukodystrophy (X‐ALD) in 2017. As there is limited retrospective data available on NBS for X‐ALD, we analyzed Minnesota's NBS results from the first year of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e29ff9e9cd5a0de89327b05539fc177a
http://europepmc.org/articles/PMC6619352
http://europepmc.org/articles/PMC6619352
Autor:
Ashish Gupta, Paul J. Orchard, Troy C. Lund, Daniel L. Kenney-Jung, Weston P. Miller, David Nascene
Publikováno v:
Blood. 133:1378-1381
Adrenoleukodystrophy (ALD) is caused by mutations within the X-linked ABCD1 gene, resulting in the inability to transport acylated very long chain fatty acids (VLCFAs) into the peroxisome for degradation. VLCFAs subsequently accumulate in tissues, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d100c06f6ac59fd39ac4194fe0eb15
https://doi.org/10.1182/blood-2018-11-887240
https://doi.org/10.1182/blood-2018-11-887240
Autor:
Maria L. Escolar, Susan Paadre, Asif M. Paker, Jean Hugues Dalle, Joanne Kurtzberg, Vinod K. Prasad, Paul J. Orchard, John J Balser, Gerald V. Raymond, Alain Fischer, Weston P. Miller, Patrick Aubourg, André Baruchel, David Nascene, Troy C. Lund, Stéphane Blanche, Gérard Michel
Publikováno v:
Biology of Blood and Marrow Transplantation. 25:538-548
Cerebral adrenoleukodystrophy (CALD) is a rapidly progressing, often fatal neurodegenerative disease caused by mutations in the ABCD1 gene, resulting in deficiency of ALD protein. Clinical benefit has been reported following allogeneic hematopoietic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfdc0897483c685c6fd41865da693da9
https://doi.org/10.1016/j.bbmt.2018.09.036
https://doi.org/10.1016/j.bbmt.2018.09.036
Publikováno v:
Transplantation and cellular therapy. 27(1)
We report the outcomes of cord blood transplantation (CBT) with a busulfan (Bu) pharmacokinetics-targeted myeloablative conditioning regimen in 97 children with Hurler syndrome (HS) performed between 2004 and 2016. The median age at CBT was 10.8 mont
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e17939ba8865dec0cc5c9ce8d294ad7
https://pubmed.ncbi.nlm.nih.gov/32961374
https://pubmed.ncbi.nlm.nih.gov/32961374