Carlos A Saavedra-Matiz
Overview
Explore the profile of Carlos A Saavedra-Matiz including associated specialties, affiliations and a list of published articles.
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17
Citations
560
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Recent Articles
1.
Lee B, Deng S, Chiriboga C, Kay D, Irumudomon O, Laureta E, et al.
Neurology
. 2022 Jul;
99(14):e1527-e1537.
PMID: 35835557
Background And Objectives: Spinal 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...
2.
Sicko R, Stevens C, Hughes E, Leisner M, Ling H, Saavedra-Matiz C, et al.
Int J Neonatal Screen
. 2021 Nov;
7(4).
PMID: 34842611
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...
3.
Corre C, Matern D, Pellegrino J, Saavedra-Matiz C, Orsini J, Thompson-Stone R
Int J Neonatal Screen
. 2021 Jun;
7(2).
PMID: 34071213
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...
4.
Kay D, Stevens C, Parker A, Saavedra-Matiz C, Sack V, Chung W, et al.
Genet Med
. 2020 May;
22(8):1296-1302.
PMID: 32418989
Purpose: 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...
5.
Gans M, Saavedra-Matiz C, Bernstein L
J Allergy Clin Immunol Pract
. 2019 Aug;
8(2):803-805.e1.
PMID: 31430593
No abstract available.
6.
Beltran-Quintero M, Bascou N, Poe M, Wenger D, Saavedra-Matiz C, Nichols M, et al.
Orphanet J Rare Dis
. 2019 Feb;
14(1):46.
PMID: 30777126
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...
7.
Marshall M, Jakubauskas B, Bogue W, Stoskute M, Hauck Z, Rue E, et al.
PLoS One
. 2018 Feb;
13(2):e0193438.
PMID: 29481565
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 in...
8.
Saavedra-Matiz C, Luzi P, Nichols M, Orsini J, Caggana M, Wenger D
J Neurosci Res
. 2016 Sep;
94(11):1076-83.
PMID: 27638593
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,...
9.
Orsini J, Saavedra-Matiz C, Gelb M, Caggana M
J Neurosci Res
. 2016 Sep;
94(11):1063-75.
PMID: 27638592
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...
10.
Orsini J, Kay D, Saavedra-Matiz C, Wenger D, Duffner P, Erbe R, et al.
Genet Med
. 2016 Jan;
18(3):239-48.
PMID: 26795590
Purpose: Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and death. The only potential treatment is hematopoietic stem cell transplantation. New...