Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Barbara W. Adam"'
Autor:
Barbara W. Adam, Sherri D Zobel, W. Harry Hannon, Elizabeth M. Hall, Joanne V. Mei, Víctor R. De Jesús
Publikováno v:
Bioanalysis. 2:1397-1403
Background: The Newborn Screening Quality Assurance Program at the Centers for Disease Control and Prevention assesses the adherence to established performance standards of manufactured lots of whole blood filter paper collection devices that are reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1216851dd64e3f898c82fefa7c805669
https://doi.org/10.4155/bio.10.73
https://doi.org/10.4155/bio.10.73
Publikováno v:
Clinical Chemistry. 55:2207-2213
Background: Succinylacetone (SUAC) is the primary metabolite accumulated in tyrosinemia type I—an inborn error of metabolism that, if untreated, can cause death from liver failure during the first months of life. Newborn screening laboratories meas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83071bb2b31e075b36dd3dbb19d3d369
https://doi.org/10.1373/clinchem.2009.133819
https://doi.org/10.1373/clinchem.2009.133819
Publikováno v:
Clinical biochemistry. 48(6)
We aimed to prepare dried-blood-spot (DBS) quality control (QC) materials for galactose-1-phosphate uridyltransferase (GALT), to evaluate their stability during storage and use, and to evaluate their performance in five DBS GALT test methods.We prepa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0390cabdee3758e9e1a89d6976deb79e
https://pubmed.ncbi.nlm.nih.gov/25528144
https://pubmed.ncbi.nlm.nih.gov/25528144
Publikováno v:
Molecular genetics and metabolism. 113(1-2)
Tyrosinemia type I (TYR I) is caused by autosomal recessive fumarylacetoacetate hydrolase deficiency and is characterized by development of severe liver disease in infancy and neurologic crises. If left untreated, most patients die of liver failure i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::440250dd1d2013c58b35139da2d11eca
https://pubmed.ncbi.nlm.nih.gov/25066104
https://pubmed.ncbi.nlm.nih.gov/25066104
Publikováno v:
The Journal of Nutrition. 131:1631S-1636S
The Centers for Disease Control and Prevention and its partners have been operating the Newborn Screening Quality Assurance Program for >20 y. The program helps participating laboratories to evaluate and improve the quality of their newborn-screening
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c403a58a1ca2d1d62b02e5176d25cffc
https://doi.org/10.1093/jn/131.5.1631s
https://doi.org/10.1093/jn/131.5.1631s
Autor:
Barbara W. Adam, W. Harry Hannon, Steven L. Hillman, Donald H. Chace, J. Richard Alexander, S. Jay Smith
Publikováno v:
Clinical Chemistry. 45:1269-1277
Background: Advances in technology and the earlier release of newborns from hospitals have pressed the demand for accurate calibration and improved interlaboratory performance for newborn screening tests. As a first step toward standardization of new
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6bea8fe3c17ab02cc80c23541930af7a
https://doi.org/10.1093/clinchem/45.8.1269
https://doi.org/10.1093/clinchem/45.8.1269
Autor:
Nancy K. Meredith, Christopher A. Haynes, Elizabeth M. Hall, V.R. De Jesus, Barbara W. Adam, Timothy H. Lim, W.H. Hannon
Publikováno v:
Clinical biochemistry. 45(18)
Succinylacetone (SUAC) is the primary metabolic marker for hepatorenal tyrosinemia.We used results reported for dried-blood-spot proficiency testing (PT) specimens and hepatorenal tyrosinemia patients' newborn screening (NBS) samples to demonstrate a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69d125a85515c7b292aaddc3b506f4ae
https://pubmed.ncbi.nlm.nih.gov/22906829
https://pubmed.ncbi.nlm.nih.gov/22906829
Autor:
Elizabeth M. Hall, V.R. De Jesus, Timothy H. Lim, W.H. Hannon, S. O'Brien, D. Simms, Barbara W. Adam, Maya R. Sternberg, Sharon R. Flores, L.X. Li
We aimed to measure separately the contributions of heat and humidity to changes in levels of 34 markers of inborn disorders in dried-blood-spot (DBS) samples.We stored paired sets of DBSs at 37°C for predetermined intervals in low-humidity and high
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::298cae5f33a1b2d19a10d17eb58349c2
https://europepmc.org/articles/PMC4557772/
https://europepmc.org/articles/PMC4557772/
Publikováno v:
Clinica Chimica Acta. 429:59-60
Sickle cell diseases are inborn blood disorders caused by the presence of an abnormal form of hemoglobin, hemoglobin S (HbS). Mortality from sickle cell disease during the first 3 to 4 years of life can be virtually eliminated by newborn screening an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a5a78f2870161e091ada61135abd5525
https://doi.org/10.1016/j.cca.2013.11.019
https://doi.org/10.1016/j.cca.2013.11.019
Publikováno v:
Clinical Chemistry. 47:758-760
The use of tandem mass spectrometry (MS-MS) in the analysis of filter paper blood spots from newborns for acylcarnitines and amino acids has expanded significantly in recent years (1)(2). With estimates of 1 million specimens analyzed by MS-MS per ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb1a0e35e0fce6ad3b5388a11626c931
https://doi.org/10.1093/clinchem/47.4.758
https://doi.org/10.1093/clinchem/47.4.758