Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Edwin W. Naylor"'
Autor:
Edwin W. Naylor, Gabriela Niizawa, Jeffrey Chung, Andrea L. Smith, Hoda Abdel-Hamid, Timothy M. Hughes, Sarah C. Hughes, Paula R. Clemens
Publikováno v:
Muscle & Nerve. 53:570-578
Introduction An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995. Methods For patients and their parent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0664dae5b7f8a3edc962b587606f54e0
https://doi.org/10.1002/mus.24880
https://doi.org/10.1002/mus.24880
Autor:
Lauren P. Hache, Steven F. Dobrowolski, Sarah C. Hughes, M. Michael Barmada, Hoda Abdel-Hamid, Molly F. Wood, Edwin W. Naylor, David E. Stickler, Paula R. Clemens
Publikováno v:
Muscle & Nerve. 49:822-828
A sensitive and specific screen for Duchenne muscular dystrophy (DMD) has been clinically confirmed, but the acceptability of adding DMD to the newborn screening (NBS) program has been controversial due to a lack of evidence that early diagnosis impr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd6c873ac8644ab70e4661cf0a554c76
https://doi.org/10.1002/mus.24100
https://doi.org/10.1002/mus.24100
Autor:
Inderneel Sahai, Susan E. Waisbren, Roman Yusupov, Edwin W. Naylor, David N. Finegold, Harvey L. Levy
Publikováno v:
Molecular Genetics and Metabolism. 101:33-39
Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is the most frequent of the fatty acid oxidation disorders (FAOD), a group caused by defects in the mitochondrial B-oxidation of fatty acids. Fatty acid oxidation is critical in supplying energy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90560254490f73419111aca553a1a6bb
https://doi.org/10.1016/j.ymgme.2010.05.007
https://doi.org/10.1016/j.ymgme.2010.05.007
Autor:
Aurora Martinez, Edwin W. Naylor, C. C. Ellingson, Harvey L. Levy, Angel L. Pey, Steven F. Dobrowolski, Richard Koch
Publikováno v:
Journal of Inherited Metabolic Disease. 32:10-21
The biochemical properties of mutant phenylalanine hydroxylase (PAH) enzymes and clinical characteristics of hyperphenylalaninaemic patients who bear these mutant enzymes were investigated. Biochemical characterization of mutant PAH enzymes p.D143G,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e017413001abd52639fa9c0f7409709f
https://doi.org/10.1007/s10545-008-0942-6
https://doi.org/10.1007/s10545-008-0942-6
Autor:
Harvey L. Levy, Thomas Coyne, Edwin W. Naylor, Jesse Grey, Ranae Martin, Clinton Ellingson, Richard Koch, Steven F. Dobrowolski
Publikováno v:
Molecular Genetics and Metabolism. 91:218-227
Phenylketonuria (PKU, MIM 261600; EC 1.14.16.1) results from mutations in the phenylalanine hydroxylase (PAH) gene. Newborn metabolic disease screening uses blood dried on filter paper (DBS) to prospectively identify candidate newborns affected with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9460986e009f24e08f7d03b56dc02287
https://doi.org/10.1016/j.ymgme.2007.03.010
https://doi.org/10.1016/j.ymgme.2007.03.010
Autor:
Jeffrey, Chung, Andrea L, Smith, Sarah C, Hughes, Gabriela, Niizawa, Hoda Z, Abdel-Hamid, Edwin W, Naylor, Timothy, Hughes, Paula R, Clemens
Publikováno v:
Musclenerve. 53(4)
An opt-out newborn screening (NBS) program for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) was implemented at 2 hospitals in Pittsburgh, Pennsylvania, between 1987 and 1995.For patients and their parents in families who rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7a7d4b65c4426a9826442660b578ea69
https://pubmed.ncbi.nlm.nih.gov/26260293
https://pubmed.ncbi.nlm.nih.gov/26260293
Publikováno v:
JALA: Journal of the Association for Laboratory Automation. 10:310-314
We developed a simple, inexpensive, and automated procedure for the extraction of genomic DNA from dried blood specimens (DBS) collected on filter paper. This DNA extraction method involves two simple steps. First, the DBS is treated with methanol. G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c3763e42e7b18fa4bcb49f8b17f32c9
https://doi.org/10.1016/j.jala.2005.07.004
https://doi.org/10.1016/j.jala.2005.07.004
Publikováno v:
Molecular Genetics and Metabolism. 86:212-219
Newborn screening for G6PD deficiency has been carried out in several countries for more than 25 years. A semi-quantitative enzymatic assay has been used in most laboratories, however, heat inactivation during the summer can cause a significant incre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b54140b100df1d90efcc24876d36c4f
https://doi.org/10.1016/j.ymgme.2005.05.008
https://doi.org/10.1016/j.ymgme.2005.05.008
Publikováno v:
Clinical Chemistry. 49:1797-1817
Background: Over the past decade laboratories that test for metabolic disorders have introduced tandem mass spectrometry (MS/MS), which is more sensitive, specific, reliable, and comprehensive than traditional assays, into their newborn-screening pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::803f078ab2c321c9ba295e7b46350f7a
https://doi.org/10.1373/clinchem.2003.022178
https://doi.org/10.1373/clinchem.2003.022178
Publikováno v:
Molecular Genetics and Metabolism. 78:100-107
Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism caused by defects in the biotinidase gene. Symptoms of biotinidase deficiency are resolved or prevented with oral biotin supplementation and as such newborn screening is p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9c4e2f87ba5a176468f0cc87ce0fd4
https://doi.org/10.1016/s1096-7192(02)00231-7
https://doi.org/10.1016/s1096-7192(02)00231-7