Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Lisa Feuchtbaum"'
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up
Autor:
Jamie Matteson, Stanley Sciortino, Lisa Feuchtbaum, Tracey Bishop, Richard S. Olney, Hao Tang
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 22 (2021)
X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the
Externí odkaz:
https://doaj.org/article/e0b3a687c949458a8fd2d9485feed8f4
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 4, p 87 (2020)
To tackle the ever-increasing ambitions of the International Journal of Neonatal Screening (IJNS), in November 2019, we were looking for an Associate Editor to strengthen the Editorial board of IJNS [...]
Externí odkaz:
https://doaj.org/article/7a25d1aaaee04405aafd13486f0a267c
Autor:
Hao Tang, Lisa Feuchtbaum, Stanley Sciortino, Jamie Matteson, Deepika Mathur, Tracey Bishop, Richard S. Olney
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 1, p 9 (2020)
The California Department of Public Health started universal newborn screening for Pompe disease in August 2018 with a two-tier process including: 1) acid alpha-glucosidase (GAA) enzyme activity assay followed by, 2) GAA gene sequencing analysis. Thi
Externí odkaz:
https://doaj.org/article/0984fecabacb4e1caf031010e37579f3
Autor:
Jamie, Matteson, Cindy H, Wu, Deepika, Mathur, Hao, Tang, Stanley, Sciortino, Lisa, Feuchtbaum, Tracey, Bishop, Sudhir C, Sharma, Partha, Neogi, Ina, Fitzgibbon, Richard S, Olney
Publikováno v:
Journal of Neuromuscular Diseases. 9:777-785
Background: Universal spinal muscular atrophy (SMA) newborn screening was implemented in California on June 24, 2020. Objective: We describe California’s experience with the first 18 months of SMA newborn screening, including our assay methodology,
Publikováno v:
J Pediatr Hematol Oncol
In recent years, California has experienced a steady rise in Asian immigration which has led to a corresponding increased prevalence of clinically significant thalassemia in this state. As part of the Public Health Research, Education and Surveillanc
Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up
Autor:
Stanley Sciortino, Richard S. Olney, Lisa Feuchtbaum, Tracey Bishop, Hao Tang, Jamie Matteson
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 7, Iss 22, p 22 (2021)
Volume 7
Issue 2
International Journal of Neonatal Screening, Vol 7, Iss 22, p 22 (2021)
Volume 7
Issue 2
X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the
Publikováno v:
Genetics in Medicine. 20:831-839
To investigate the 5-year follow-up status for newborns diagnosed with metabolic disorders designated as “primary disorders” on the federal Recommended Uniform Screening Panel (RUSP). Follow-up status and demographic characteristics are described
Autor:
H. Tang, William R. Wilcox, Karen Leydiker, H.J. Lin, Natalie M. Gallant, Yael Wilnai, Seymour Packman, Gregory M. Enns, Chung Lee, Jose E. Abdenur, Lisa Feuchtbaum, Fred Lorey, Jennifer M. Carter, Stephen D. Cederbaum
Publikováno v:
Molecular Genetics and Metabolism. 122:76-84
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset
Autor:
Alan A. Nguyen, Rajni Agarwal-Hashmi, Joseph A. Church, Christopher C. Dvorak, Morton J. Cowan, Morna J. Dorsey, Lisa Feuchtbaum, Elena Grimbacher, Theodore B. Moore, George S. Amatuni, Stanley J. Naides, Robert J. Currier, M. Louise Markert, Tracey Bishop, Manish J. Butte, Jennifer M. Puck, Donald B. Kohn, Rasoul Alikhani Koupaei, Constantino P. Aznar, Neena Kapoor, Stanley Sciortino
Publikováno v:
Pediatrics, vol 143, iss 2
OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. In the ensuing 6.5 years, 3 252 156 infants in the state had DNA from dried blood spots assayed for T-cell receptor excision circles (TREC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff93c3f6ddcdc57af72289d7eb5c0ff
https://europepmc.org/articles/PMC6361357/
https://europepmc.org/articles/PMC6361357/
Autor:
Jamie Matteson, Deepika Mathur, Hao Tang, Lisa Feuchtbaum, Richard S. Olney, Stanley Sciortino, Tracey Bishop
Publikováno v:
International Journal of Neonatal Screening
Volume 6
Issue 1
International Journal of Neonatal Screening, Vol 6, Iss 1, p 9 (2020)
Volume 6
Issue 1
International Journal of Neonatal Screening, Vol 6, Iss 1, p 9 (2020)
The California Department of Public Health started universal newborn screening for Pompe disease in August 2018 with a two-tier process including: 1) acid alpha-glucosidase (GAA) enzyme activity assay followed by, 2) GAA gene sequencing analysis. Thi