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
11.
Hughes E, Stevens C, Saavedra-Matiz C, Tavakoli N, Krein L, Parker A, et al.
Hum Mutat
. 2015 Nov;
37(2):201-8.
PMID: 26538069
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...
12.
Kay D, Maloney B, Hamel R, Pearce M, DeMartino L, McMahon R, et al.
Eur J Pediatr
. 2015 Aug;
175(2):181-93.
PMID: 26293390
Conclusion: Considerations for CF screening algorithms should include IRT variations resulting from age at specimen collection, sex, race/ethnicity, season, and manufacturer kit lots. What Is Known: Measuring IRT level in...
13.
Kay D, Langfelder-Schwind E, DeCelie-Germana J, Sharp J, Maloney B, Tavakoli N, et al.
Pediatr Pulmonol
. 2015 Jun;
50(8):771-80.
PMID: 26098992
Newborn screening for Cystic Fibrosis (CF) began in New York in October, 2002 using immunoreactive trypsinogen (IRT)/DNA methodology. Infants with at least one CFTR mutation or very high IRT and...
14.
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States
Kwan A, Abraham R, Currier R, Brower A, Andruszewski K, Abbott J, et al.
JAMA
. 2014 Aug;
312(7):729-38.
PMID: 25138334
Importance: Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended...
15.
Saavedra-Matiz C, Isabelle J, Biski C, Duva S, Sweeney M, Parker A, et al.
Clin Chem
. 2013 Mar;
59(7):1045-51.
PMID: 23509109
Background: Dried blood spot (DBS) samples have been widely used in newborn screening (NBS) for the early identification of disease to facilitate the presymptomatic treatment of congenital diseases in newborns....
16.
Arnold G, Saavedra-Matiz C, Galvin-Parton P, Erbe R, Devincentis E, Kronn D, et al.
Mol Genet Metab
. 2009 Dec;
99(3):263-8.
PMID: 20036593
Introduction: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common inborn errors of metabolism. Affected patients have impaired ability to break down medium chain fatty acids during...
17.
Nichols M, Saavedra-Matiz C, Pass K, Caggana M
Am J Med Genet A
. 2008 Feb;
146A(5):610-9.
PMID: 18241067
Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is one of the most common fatty acid oxidation disorders. A subpopulation of children with MCADD present with metabolic crisis induced by fasting or...