Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Carlos A Saavedra-Matiz"'
Autor:
Michael S Marshall, Benas Jakubauskas, Wil Bogue, Monika Stoskute, Zane Hauck, Emily Rue, Matthew Nichols, Lisa L DiAntonio, Richard B van Breemen, Jeffrey H Kordower, Carlos A Saavedra-Matiz, Ernesto R Bongarzone
Publikováno v:
PLoS ONE, Vol 13, Iss 2, p e0193438 (2018)
α-Synuclein aggregation has been linked to Gaucher's disease (GD) and Krabbe's disease (KD), lysosomal conditions affecting glycosphingolipid metabolism. α-Synuclein pathology has been directly attributed to the dysregulation of glycosphingolipids
Externí odkaz:
https://doaj.org/article/82002b21deef48d4b5449c1f7f92f94b
Autor:
Camille S. Corre, Dietrich Matern, Joan E. Pellegrino, Carlos A. Saavedra-Matiz, Joseph J. Orsini, Robert Thompson-Stone
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 28 (2021)
Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later
Externí odkaz:
https://doaj.org/article/b2e625b1690f44cbb0e90cbc2881fb22
Autor:
Bo Hoon Lee, Stella Deng, Claudia A. Chiriboga, Denise M. Kay, Obehioya Irumudomon, Emma Laureta, Leslie Delfiner, Simona O. Treidler, Yaacov Anziska, Ai Sakonju, Chelsea Kois, Osman Farooq, Kristin Engelstad, Alexandra Laurenzano, Katherine Hogan, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Emma Ciafaloni
Publikováno v:
Neurology
Background and ObjectivesSpinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved disease-modifying therapies. New York State (NYS) started
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee873a2680827d73e98bae9d821331c5
https://pubmed.ncbi.nlm.nih.gov/35835557
https://pubmed.ncbi.nlm.nih.gov/35835557
Autor:
Melissa Leisner, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Erin E. Hughes, Robert J. Sicko, Helen Ling, Denise M. Kay
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 73, p 73 (2021)
International Journal of Neonatal Screening
Volume 7
Issue 4
International Journal of Neonatal Screening
Volume 7
Issue 4
Newborn screening (NBS) for Cystic Fibrosis (CF) is associated with improved outcomes. All US states screen for CF
however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS i
however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667ce9fd81c8ddaa3d7945f7a569cf28
https://www.mdpi.com/2409-515X/7/4/73
https://www.mdpi.com/2409-515X/7/4/73
Autor:
Joan E. Pellegrino, Carlos A. Saavedra-Matiz, Camille Corre, Joseph J. Orsini, Robert Thompson-Stone, Dietrich Matern
Publikováno v:
International Journal of Neonatal Screening
International Journal of Neonatal Screening, Vol 7, Iss 28, p 28 (2021)
International Journal of Neonatal Screening, Vol 7, Iss 28, p 28 (2021)
Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::525f697866bfb3485a731ed752f78c3b
http://europepmc.org/articles/PMC8162352
http://europepmc.org/articles/PMC8162352
Autor:
Kristin Engelstad, Colleen F. Stevens, Emma Laureta, Claudia A. Chiriboga, April Parker, Simona Treidler, Emma Ciafaloni, Leslie Delfiner, Michele Caggana, Denise M. Kay, Yaacov Anziska, Carlos A. Saavedra-Matiz, Osman Farooq, Ai Sakonju, Bo Hoon Lee, Sohail Malek, Virginia Sack, Wendy K. Chung
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(8)
Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel (RUSP) in July 2018, following FDA approval of the first effective SMA treatment, and demonstration of feasibility of high-throughput newborn screening using a primary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07cf1357c43ea64109310216c9601a58
https://pubmed.ncbi.nlm.nih.gov/32601389
https://pubmed.ncbi.nlm.nih.gov/32601389
Autor:
Maria L. Beltran-Quintero, Matthew Nichols, Maria L. Escolar, Carlos A. Saavedra-Matiz, Michele D. Poe, Nicholas A. Bascou, David A. Wenger
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Background Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, β-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems. If left without treatment, Krabbe disease res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1caa3f7c8333e40106f0491c45e6c4
http://europepmc.org/articles/PMC6378723
http://europepmc.org/articles/PMC6378723
Publikováno v:
Journal of Neuroscience Research. 94:1063-1075
Live newborn screening for Krabbe's disease (KD) was initiated in New York on August 7, 2006, and started in Missouri in August, 2012. As of August 7, 2015, nearly 2.5 million infants had been screened, and 443 (0.018%) infants had been referred for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b41aa2a2a5ba6c62f23d610871434c54
https://doi.org/10.1002/jnr.23781
https://doi.org/10.1002/jnr.23781
Autor:
David A. Wenger, Michele Caggana, Joseph J. Orsini, Carlos A. Saavedra-Matiz, Matthew Nichols, Paola Luzi
Publikováno v:
Journal of Neuroscience Research. 94:1076-1083
Newborn screening (NBS) for Krabbe's disease (KD) has been instituted in several states, and New York State has had the longest experience. After an initial screening of dried blood spots, samples from individuals with galactocerebrosidase (GALC) val
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e65892bea1dfd6d3767d0d1afeec7941
https://doi.org/10.1002/jnr.23905
https://doi.org/10.1002/jnr.23905
Autor:
Patrick Van Roey, Ran D. Anbar, Karen Z. Voter, Catherine Kier, Zhen Zhang, Andrew Ting, Denise M. Kay, Allen J. Dozor, Norma P. Tavakoli, Maria Berdella, Danielle Goetz, Lea M. Krein, Colleen F. Stevens, Louis Guida, Michele Caggana, Breanne Maloney, Erin E. Hughes, Beth Vogel, Meyer Kattan, Paul G. Comber, Joan DeCelie-Germana, April Parker, Carlos A. Saavedra-Matiz
Publikováno v:
Human Mutation. 37:201-208
Infants are screened for cystic fibrosis (CF) in New York State (NYS) using an IRT-DNA algorithm. The purpose of this study was to validate and assess clinical validity of the US FDA-cleared Illumina MiSeqDx CF 139-Variant Assay (139-VA) in the diver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::190840d4d08a36ca68b1d2461e0003f9
https://doi.org/10.1002/humu.22927
https://doi.org/10.1002/humu.22927