Carlos E Prada
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Explore the profile of Carlos E Prada including associated specialties, affiliations and a list of published articles.
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91
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1211
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Recent Articles
1.
Mistry P, Cassiman D, Jones S, Lachmann R, Lukina E, Prada C, et al.
Hepatol Commun
. 2025 Jan;
9(1).
PMID: 39774103
Background: Acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are rare inherited sphingolipid disorders with multisystemic manifestations, including liver disease and dyslipidemia. Despite effective treatments, insufficient disease awareness...
2.
Savarirayan R, Irving M, Wilcox W, Bacino C, Hoover-Fong J, Harmatz P, et al.
Med
. 2024 Dec;
:100566.
PMID: 39740666
Background: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over an extended duration...
3.
Savarirayan R, Irving M, Wilcox W, Bacino C, Hoover-Fong J, Harmatz P, et al.
Genet Med
. 2024 Sep;
26(12):101274.
PMID: 39305160
Purpose: Evaluate the impact of vosoritide on health-related quality of life in children with achondroplasia. Methods: Participants received vosoritide (15 μg/kg/day) in an extension trial (NCT03424018) after having participated in...
4.
McRae A, Duncan J, Drackley A, Ing A, Allegretti V, Raski C, et al.
Am J Med Genet A
. 2024 Sep;
197(1):e63873.
PMID: 39257254
The recurrent chromosome 16p11.2 BP4-BP5 microdeletion (MIM #611913) predisposes to a neurodevelopmental disorder with variable associated congenital anomalies and susceptibility to early-onset obesity. We identified 22 new individuals with proximal...
5.
Day M, Puello Y, Mejia Sang M, Diaz Brockmans E, Diaz Soto M, Rivera Defillo S, et al.
Biomed Res Int
. 2024 Aug;
2024:3716786.
PMID: 39130533
Dengue fever (DF) is a mosquito-borne illness with substantial economic and societal impact. Understanding laboratory trends of hospitalized Dominican Republic (DR) pediatric patients could help develop screening procedures in low-resourced...
6.
Herbster J, Prada C, Rasmussen C, Quadri A, Kuritza V, Viglione M, et al.
Am J Med Genet A
. 2024 Aug;
194(12):e63835.
PMID: 39101525
We describe a case in which a type 1 Gaucher patient developed ichthyosis weeks after starting substrate reduction therapy (SRT) with eliglustat. There are no reports of ichthyosis in the...
7.
Liu A, Shen Y, Serbinski C, He H, Roman D, Endale M, et al.
HGG Adv
. 2024 Jul;
5(4):100333.
PMID: 39030910
Heterozygous de novo or inherited gain-of-function mutations in the MTOR gene cause Smith-Kingsmore syndrome (SKS). SKS is a rare autosomal dominant condition, and individuals with SKS display macrocephaly/megalencephaly, developmental delay,...
8.
Garzon J, Patete A, Aschbacher-Smith L, Qud D, Kelly-Mancuso G, Raski C, et al.
Am J Med Genet C Semin Med Genet
. 2024 Jul;
196(4):e32095.
PMID: 39022906
Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1...
9.
Garzon J, Pardo A, Raski C, Prada C
Am J Med Genet A
. 2024 May;
194(10):e63718.
PMID: 38760987
Dandy-Walker malformation (DWM) is often sporadic, but there are a growing number of genetic disorders that have been associated with this condition. We present a female individual with a de...
10.
Silva M, Raski C, Charrow J, Baker J, Prada C
Am J Med Genet A
. 2024 May;
194(9):e63659.
PMID: 38722054
Propionic acidemia is a metabolic condition with multiple serious acute and chronic presentations that require strict monitoring. Literature on liver function abnormalities in propionic acidemia is scarce, and the mechanism...