Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Gary E Eddey"'
Publikováno v:
Developmental Medicine & Child Neurology. 45:167-171
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6bd5e4be82fa5b03b360bd99a035e42e
https://doi.org/10.1111/j.1469-8749.2003.tb00925.x
https://doi.org/10.1111/j.1469-8749.2003.tb00925.x
Autor:
James C. Harris, Isabelle Desguerre, Jasper E. Visser, Gary E. Eddey, Juan G. Puig, Laura E. Laróvere, Olivier Dulac, Vladimir Neychev, Irène Ceballos-Picot, Kenneth L. Robey, Bastiaan R. Bloem, Stephen G. Reich, Gabor Barabas, Hyder A. Jinnah, Alfonso Verdu, Rosa J. Torres, David J. Schretlen, Raquel Dodelson de Kremer, Pedro Gonzalez-Alegre, William L. Nyhan
Publikováno v:
Brain, 129, 1201-17
Brain, 129, Pt 5, pp. 1201-17
Brain, 129, Pt 5, pp. 1201-17
Contains fulltext : 51161.pdf (Publisher’s version ) (Open Access) Lesch-Nyhan disease (LND) is caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit over-production of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6768d376f4a44ff73cd714a990cfe5bf
https://doi.org/10.1093/brain/awl056
https://doi.org/10.1093/brain/awl056
Publikováno v:
Nucleosides, Nucleotides and Nucleic Acids. 23:1161-1164
Reports describing the neurological features of Lesch-Nyhan disease (LND) vary widely, thereby implying the involvement of different neurological substrates. The movement abnormalities in 20 patients with LND were investigated. Dystonia was the most
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82a9f7c7f8188eec808dc8b777b23b5f
https://doi.org/10.1081/ncn-200027432
https://doi.org/10.1081/ncn-200027432
Autor:
Linda M. Long-Bellil, Catherine L. Graham, Laurie Woodard, Paula M. Minihan, Kenneth L. Robey, Gary E. Eddey, Joan Earle Hahn
Publikováno v:
Academic medicine : journal of the Association of American Medical Colleges. 86(9)
The problems adults with disabilities face obtaining quality primary care services are persistent and undermine national efforts to improve the health status of this group. Efforts to address this issue by providing disability-related training to phy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee5b51454e188a4faff8ea5bdd59a34f
https://pubmed.ncbi.nlm.nih.gov/21865902
https://pubmed.ncbi.nlm.nih.gov/21865902
Publikováno v:
Academic Medicine. 73:S106-108
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c7f4a206ae6668d2c86e3982b6ac27d
https://doi.org/10.1097/00001888-199810000-00061
https://doi.org/10.1097/00001888-199810000-00061
Autor:
Kenneth L. Robey, Gary E. Eddey
Publikováno v:
Academic medicine : journal of the Association of American Medical Colleges. 80(7)
Cultural competence extends beyond understanding those values, beliefs, and needs that are associated with patients' age or gender or with their racial, ethnic, or religious backgrounds. People hold many simultaneous cultural associations, and each h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::881815f60b27a955d2a7e1fbad8fa6ea
https://pubmed.ncbi.nlm.nih.gov/15980092
https://pubmed.ncbi.nlm.nih.gov/15980092
Publikováno v:
ChemInform. 36
Reports describing the neurological features of Lesch‐Nyhan disease (LND) vary widely, thereby implying the involvement of different neurological substrates. The movement abnormalities in 20 patients with LND were investigated. Dystonia was the mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ce10272b179d2e4d301a61bf3959804
https://doi.org/10.1002/chin.200509217
https://doi.org/10.1002/chin.200509217
Publikováno v:
Developmental Medicine & Child Neurology. 45
Lesch-Nyhan disease (LND) is a rare X-linked recessive genetic disorder associated with cognitive impairment, choreoathetosis, hyperuricemia, and the hallmark symptom of severe and involuntary self-mutilation. This study examines data gathered from a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc9236e02c94ab5f3f9ba154e2e9678c
https://doi.org/10.1017/s001216220300032x
https://doi.org/10.1017/s001216220300032x
Autor:
Richard F. Lewis, Gaybor Barabas, Hyder A. Jinnah, Jasper E. Visser, James C. Harris, Gary E. Eddey
Publikováno v:
Pediatric neurology. 24(3)
Eye movements were assessed in 22 patients with varying degrees of hypoxanthine-guanine phosphoribosyltransferase deficiency. Ocular motility was clinically normal in seven patients with moderate enzyme deficiency but grossly abnormal in 15 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa6bc03b9f7800a3d6dc314ce9977f0d
https://pubmed.ncbi.nlm.nih.gov/11301220
https://pubmed.ncbi.nlm.nih.gov/11301220
Autor:
Gary E. Eddey
Publikováno v:
Developmental Medicine & Child Neurology. 47:71-72
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe0dae3f445ea789b355b9ab6690e4e
https://doi.org/10.1111/j.1469-8749.2005.tb01044.x
https://doi.org/10.1111/j.1469-8749.2005.tb01044.x