Zobrazeno 1 - 10
of 623
pro vyhledávání: '"R A Howell"'
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 3, p 41 (2022)
Progress in newborn screening (NBS) has been driven for 60 years by developments in science and technology, growing consumer advocacy, the actions of providers involved in the care of rare disease patients, and by federal and State government funding
Externí odkaz:
https://doaj.org/article/effae7a4000a43fc8f581638bb840b54
Autor:
Jerry Vockley, Annemieke Aartsma‐Rus, Jennifer L. Cohen, Lex M. Cowsert, R. Rodney Howell, Timothy W. Yu, Melissa P. Wasserstein, Thomas Defay
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:19-29
Rare genetic disorders affect as many as 3%-5% of all babies born. Approximately 10,000 such disorders have been identified or hypothesized to exist. Treatment is supportive except in a limited number of instances where specific therapies exist. Deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2821798ccdb5f2a76dc62c5bbda828a
https://doi.org/10.1002/ajmg.c.32017
https://doi.org/10.1002/ajmg.c.32017
Autor:
R. Rodney Howell
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 1, p 3 (2021)
It would be difficult to overestimate the importance of persistent, thoughtful parents and their importance in the development of treatments for their children’s rare disorders. Almost a century ago in Norway, observant parents led a brilliant youn
Externí odkaz:
https://doaj.org/article/500acd9136aa41a6a2c034d6f9ccd093
Autor:
R. Rodney Howell, Graham Sinclair
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 2, p 45 (2020)
One of the most dramatic discoveries in metabolic disease research was that of Ashbørn Følling, who in 1934, published his research outlining unusual biochemical findings in a set of siblings with severe developmental delay [...]
Externí odkaz:
https://doaj.org/article/ffdf497db14e4f819b8c3fa3fe9aec58
Autor:
Douglas A. Kerr, Nancy L. Kuntz, John W. Day, Jacinda B. Sampson, Anne M. Connolly, R. Rodney Howell, Jacqueline J. Glascock, Katherine W. Klinger, Jill Jarecki, Thomas O. Crawford, Basil T. Darras, Richard S. Finkel, Perry B. Shieh, Thomas W. Prior
Publikováno v:
Journal of Neuromuscular Diseases
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb7e511b53207dfa4b1309d0610d5f7
http://europepmc.org/articles/PMC7175931
http://europepmc.org/articles/PMC7175931
Autor:
Michele A. Lloyd-Puryear, Thomas O. Crawford, Amy Brower, Kristin Stephenson, Tracy Trotter, Edward Goldman, Aaron Goldenberg, R. Rodney Howell, Annie Kennedy, Michael Watson
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 1, p 6 (2018)
Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births. While Duchenne is a 100% fatal disease, the clinical community has demonstrated that
Externí odkaz:
https://doaj.org/article/e622a8ba95d740508fd21d424b3f5a5f
Autor:
R. Rodney Howell
Publikováno v:
Annual Review of Genomics and Human Genetics. 19:1-14
Mike, a memorable young patient with untreated phenylketonuria, as well as others affected by genetic disorders that could be treated if diagnosed in infancy, launched my six-decade career. This autobiographical article reflects on my childhood, earl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08d8b8137703ca2056152c9b9ffc95e5
https://doi.org/10.1146/annurev-genom-083117-021611
https://doi.org/10.1146/annurev-genom-083117-021611
Autor:
John W. Day, Douglas A. Kerr, Amanda M. Haidet-Phillips, Nancy L. Kuntz, Richard S. Finkel, Perry B. Shieh, Thomas W. Prior, Jacinda B. Sampson, Jill Jarecki, Katherine W. Klinger, Anne M. Connolly, R. Rodney Howell, Jacqueline J. Glascock, Thomas O. Crawford, Basil T. Darras
Publikováno v:
Journal of Neuromuscular Diseases. 5:145-158
Background Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60ac865e880017d29f372ddf414d5950
https://doi.org/10.3233/jnd-180304
https://doi.org/10.3233/jnd-180304
Autor:
R. Rodney Howell, Stephan Züchner
Publikováno v:
Genetics in Medicine. 21:536-538
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4523698bc1f6b8d985c03b6b6462885
https://doi.org/10.1038/s41436-018-0086-5
https://doi.org/10.1038/s41436-018-0086-5
Autor:
Robert J. Ostrander, Lucja Grajkowska, Anne M. Connolly, Richard S. Finkel, Kathryn J. Swoboda, Amanda M. Haidet-Phillips, Michael S. Watson, Laura Hagerty, Lianna Orlando, R. Rodney Howell, Mei W. Baker, Robert C. Griggs, Barry J. Byrne
Publikováno v:
JAMA neurology. 76(8)
Importance Newborn screening (NBS) identifies infants with specific congenital disorders for which earlier intervention cannot only prevent a lifetime of chronic disability but also, most importantly, save lives. In this article, we discuss complexit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6828c9c6d96ef1693b793bba1ad9b6be
https://pubmed.ncbi.nlm.nih.gov/31107518
https://pubmed.ncbi.nlm.nih.gov/31107518