Charles P Venditti
Overview
Explore the profile of Charles P Venditti including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
88
Citations
2113
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Mylvara A, Davidson C, Alexander D, Venditti C, Porter F
Hum Gene Ther
. 2025 Feb;
PMID: 40014475
Niemann-Pick disease, type C1 (NPC1), is a rare, fatal neurodegenerative disorder caused by pathological variations in . We and others have previously demonstrated the efficacy of systemic adeno-associated virus (AAV)...
2.
Lomash R, Dehdashti J, Shchelochkov O, Chandler R, Li L, Manoli I, et al.
Hum Gene Ther
. 2025 Feb;
36(5-6):653-662.
PMID: 39976996
Gene therapy development presents multiple challenges, and early planning is vital in the successful implementation of such programs. The Platform Vector Gene Therapy (PaVe-GT) program is a National Institutes of...
3.
Shchelochkov O, Davies H, Mohney R, Hatch A, Birch O, Ferry S, et al.
Mol Genet Metab
. 2025 Jan;
144(3):109005.
PMID: 39787887
Background: Impaired oxidation of branched chain amino acids may give rise to volatile organic compounds (VOCs). We hypothesized that VOCs will be present in exhaled breath of participants with propionic...
4.
Mylvara A, Gibson A, Gu T, Davidson C, Incao A, Melnyk K, et al.
bioRxiv
. 2024 Jun;
PMID: 38895471
Niemann-Pick disease, type C1 (NPC1) is a rare, fatal neurodegenerative disorder caused by pathological variants in , which encodes a lysosomal cholesterol transport protein. There are no FDA approved treatments...
5.
Hjalmarsson C, Backelin C, Thoren A, Bergh N, Sloan J, Manoli I, et al.
Mol Genet Metab Rep
. 2024 May;
39:101089.
PMID: 38745823
Introduction Cobalamin c deficiency (cblC), an inborn error of vitamin B12 metabolism, is caused by mutations of the MMACHC gene. It usually leads to a multisystemic disease; 50% of all...
6.
Manoli I, Sysol J, Head P, Epping M, Gavrilova O, Crocker M, et al.
JCI Insight
. 2024 Jan;
9(4).
PMID: 38271099
A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of branched-chain amino acid (BCAA) metabolism, characterized by centripetal obesity with proximal upper...
7.
Baruteau J, Keshavan N, Venditti C
J Inherit Metab Dis
. 2024 Jan;
47(1):5-6.
PMID: 38221761
No abstract available.
8.
Shchelochkov O, Farmer C, Chlebowski C, Adedipe D, Ferry S, Manoli I, et al.
Mol Psychiatry
. 2024 Jan;
29(4):974-981.
PMID: 38200289
Propionic acidemia (PA) is an autosomal recessive condition (OMIM #606054), wherein pathogenic variants in PCCA and PCCB impair the activity of propionyl-CoA carboxylase. PA is associated with neurodevelopmental disorders, including...
9.
Chandler R, Di Pasquale G, Choi E, Chang D, Smith S, Sloan J, et al.
Mol Ther Methods Clin Dev
. 2023 Sep;
30:181-190.
PMID: 37746248
Propionic acidemia (PA) is rare autosomal recessive metabolic disorder caused by defects in the mitochondrially localized enzyme propionyl-coenzyme A (CoA) carboxylase. Patients with PA can suffer from lethal metabolic decompensation...
10.
Chandler R, Venditti C
J Inherit Metab Dis
. 2023 Aug;
47(1):63-79.
PMID: 37530705
Organic acidemias (OA) are a group of rare autosomal recessive disorders of intermediary metabolism that result in a systemic elevation of organic acid. Despite optimal dietary and cofactor therapy, OA...