Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Jamie, Matteson"'
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,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fba8fbb1cfbab1c2fe02a806118d56a
https://doi.org/10.3233/jnd-221561
https://doi.org/10.3233/jnd-221561
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
Autor:
Hao Tang, Jamie Matteson, Piero Rinaldo, Silvia Tortorelli, Robert Currier, Stanley Sciortino
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 3, p 62 (2020)
Since the start of X-linked adrenoleukodystrophy (ALD) newborn screening in California, more than half of the diagnosed cases were found to have an ATP binding cassette subfamily D member 1 (ABCD1) gene variant of uncertain significance (VUS). To det
Externí odkaz:
https://doaj.org/article/aaa90dbba1e8455f98433542b2eac03b
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
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2503725c9cf92a8adb66cd4155f445a6
https://pubmed.ncbi.nlm.nih.gov/33920672
https://pubmed.ncbi.nlm.nih.gov/33920672
Autor:
Silvia Tortorelli, Piero Rinaldo, Jamie Matteson, Robert J. Currier, Hao Tang, Stanley Sciortino
Publikováno v:
International Journal of Neonatal Screening
Volume 6
Issue 3
International Journal of Neonatal Screening, Vol 6, Iss 62, p 62 (2020)
Volume 6
Issue 3
International Journal of Neonatal Screening, Vol 6, Iss 62, p 62 (2020)
Since the start of X-linked adrenoleukodystrophy (ALD) newborn screening in California, more than half of the diagnosed cases were found to have an ATP binding cassette subfamily D member 1 (ABCD1) gene variant of uncertain significance (VUS). To det
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae3d9cd9b23fe55c66dbe929fe91432d
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de365f4a1d59ef398b583d5a7777c65e
https://doi.org/10.3390/ijns6010009
https://doi.org/10.3390/ijns6010009
Publikováno v:
American Journal of Obstetrics and Gynecology. 220:S678-S679
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6fd8b3808602fe77d74c4deee19460cc
https://doi.org/10.1016/j.ajog.2018.11.1082
https://doi.org/10.1016/j.ajog.2018.11.1082
Publikováno v:
American Journal of Obstetrics and Gynecology. 216:S360
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7aeae9fa7f9d7e6f9a6b6444266c7cf
https://doi.org/10.1016/j.ajog.2016.11.348
https://doi.org/10.1016/j.ajog.2016.11.348
Autor:
Manuel Porto, Cheryl Ikeda, Robert Currier, Mary E. Norton, Jamie Matteson, Amen Ness, Sara Goldman
Publikováno v:
American Journal of Obstetrics and Gynecology. 212:S122
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::28d9384e217edb9b384a6189afaa5827
https://doi.org/10.1016/j.ajog.2014.10.263
https://doi.org/10.1016/j.ajog.2014.10.263