Zobrazeno 1 - 10
of 396
pro vyhledávání: '"William R. Wilcox"'
Autor:
Robert J. Hopkin, Ulla Feldt-Rasmussen, Dominique P. Germain, Ana Jovanovic, Ana Maria Martins, Kathleen Nicholls, Alberto Ortiz, Juan Politei, Elvira Ponce, Carmen Varas, Frank Weidemann, Meng Yang, William R. Wilcox
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100670- (2020)
Background: Fabry disease is an inherited disorder of glycolipid metabolism with progressive involvement of multiple organs, including the gastrointestinal tract, in classically affected male patients. Clinical presentations in males with later-onset
Externí odkaz:
https://doaj.org/article/539b308254b24c07ac41d8b8ceeb4b74
Autor:
Yuan Xue, William R. Wilcox
Publikováno v:
Cancer Biology & Medicine, Vol 13, Iss 1, Pp 12-18 (2016)
Precision medicine aims to identify the right drug, for the right patient, at the right dose, at the right time, which is particularly important in cancer therapy. Problems such as the variability of treatment response and resistance to medication ha
Externí odkaz:
https://doaj.org/article/e0089328fbc84d5ea5ef70d84e3f164d
Publikováno v:
Cancer Biology & Medicine, Vol 13, Iss 1, Pp 55-67 (2016)
The introduction of next-generation sequencing (NGS) technology in testing for hereditary cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously. While there are many potential benefits to utilizing this technolog
Externí odkaz:
https://doaj.org/article/e5c21542f09f4a20890a9c5abf6d88e7
Autor:
Patricia L. Hall, Rossana Sanchez, Arthur F. Hagar, S. Caleb Jerris, Angela Wittenauer, William R. Wilcox
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 1, p 2 (2020)
We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia. We screened 59,332 infants using a two-tier strategy of flow injection tandem mass spectromet
Externí odkaz:
https://doaj.org/article/36dde7b1dc7c45419593b201508a0a37
Autor:
Kathryn Elkins, Angela Wittenauer, Arthur F. Hagar, Rachel Logan, Elizabeth Sekul, Yijin Xiang, Sumit Verma, William R. Wilcox
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:187-196
The purpose of this study is to provide the results of the newborn screening (NBS) program for Spinal Muscular Atrophy (SMA) in the state of Georgia to determine disease incidence, time to diagnosis and treatment, and early outcomes. NBS for SMA was
Autor:
Robert J. Hopkin, Gustavo H. Cabrera, John L. Jefferies, Meng Yang, Elvira Ponce, Eva Brand, Ulla Feldt-Rasmussen, Dominique P. Germain, Nathalie Guffon, Ana Jovanovic, Ilkka Kantola, Amel Karaa, Ana M. Martins, Camilla Tøndel, William R. Wilcox, Han-Wook Yoo, Alessandro P. Burlina, Michael Mauer
Publikováno v:
Molecular Genetics and Metabolism
Background Clinical manifestations of classic Fabry disease (α-galactosidase A deficiency) usually occur in childhood, while complications involving major organs typically develop in adulthood. Outcomes of Fabry-specific treatment among young patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::626212e9196b792ddb0cee26da2d2fc6
https://hdl.handle.net/11250/3058803
https://hdl.handle.net/11250/3058803
Autor:
Christoph Wanner, Alberto Ortiz, William R. Wilcox, Robert J. Hopkin, Jack Johnson, Elvira Ponce, Johan T. Ebels, Julie L. Batista, Manish Maski, Juan M. Politei, Ana Maria Martins, Maryam Banikazemi, Aleš Linhart, Michael Mauer, João P. Oliveira, Frank Weidemann, Dominique P. Germain
Publikováno v:
Molecular Genetics and Metabolism. 139:107603
Publikováno v:
Parkinsonism Relat Disord
Background The AARS2 gene encodes a mitochondrial alanyl-transfer RNA synthetase. Defects in this gene have been linked with autosomal recessive inheritance of a variety of different clinical phenotypes. Case A 13 year-old boy developed behavioral an
Autor:
Yulan Qi, Alice Huntsman-Labed, Carlos A. Bacino, Keiichi Ozono, Jonathan Day, Klaus Mohnike, Melita Irving, William R. Wilcox, Anu Cherukuri, Ming Liang Chan, Julie Hoover-Fong, Elena Fisheleva, William A. Horton, Kevin Larimore, Ravi Savarirayan, Lori Seid, Kala Jayaram, Joshua Henshaw, George Jeha
Publikováno v:
Clinical Pharmacokinetics. 61:263-280
Vosoritide, an analog of C-type natriuretic peptide, has been developed for the treatment of children with achondroplasia. The pharmacokinetics of vosoritide and relationships between plasma exposure and efficacy, biomarkers, and safety endpoints wer
Autor:
Ravi Savarirayan, Melita Irving, Paul Harmatz, Borja Delgado, William R. Wilcox, John Philips, Natalie Owen, Carlos A. Bacino, Louise Tofts, Joel Charrow, Lynda E. Polgreen, Julie Hoover-Fong, Paul Arundel, Ignacio Ginebreda, Howard M. Saal, Donald Basel, Rosendo Ullot Font, Keiichi Ozono, Michael B. Bober, Valerie Cormier-Daire, Kim-Hanh Le Quan Sang, Genevieve Baujat, Yasemin Alanay, Frank Rutsch, Daniel Hoernschemeyer, Klaus Mohnike, Hiroshi Mochizuki, Asako Tajima, Yumiko Kotani, David D. Weaver, Klane K. White, Clare Army, Kevin Larrimore, Keith Gregg, George Jeha, Claire Milligan, Elena Fisheleva, Alice Huntsman-Labed, Jonathan Day
This study was undertaken to collect baseline growth parameters in children with achondroplasia who might enroll in interventional trials of vosoritide, and to establish a historical control.In this prospective, observational study, participants (≤
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f453eff204de636d775f291695fcb1b7
https://hdl.handle.net/10668/22253
https://hdl.handle.net/10668/22253