Jerry Vockley
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Explore the profile of Jerry Vockley including associated specialties, affiliations and a list of published articles.
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266
Citations
5436
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Recent Articles
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Ghaloul-Gonzalez L, Parker L, Davis J, Vockley J
Pediatr Res
. 2025 Jan;
PMID: 39843777
Over the past two decades, genomic sequencing (exome and genome) has proven to be critical in providing a faster and more accurate diagnosis as well as tailored treatment plans for...
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.
Kasprzyk-Pawelec A, Tan M, Rahhal R, McIntosh A, Fernandez H, Mosaoa R, et al.
Cell Death Differ
. 2024 Dec;
PMID: 39733217
Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the...
5.
Smith W, Berry S, Bloom K, Brown C, Burton B, Demarest O, et al.
Genet Med
. 2024 Dec;
27(1):101289.
PMID: 39630157
Purpose: To replace an existing clinical practice guideline for the diagnosis and management of phenylalanine hydroxylase (PAH) deficiency. Methods: The PAH Deficiency Guideline Workgroup used the Grading of Recommendations Assessment,...
6.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes G, Falk M, et al.
Orphanet J Rare Dis
. 2024 Nov;
19(1):431.
PMID: 39574155
Background: As previously published, the MMPOWER-3 clinical trial did not demonstrate a significant benefit of elamipretide treatment in a genotypically diverse population of adults with primary mitochondrial myopathy (PMM). However,...
7.
Lin X, Adams S, Vockley J, Odle J
Adv Nutr
. 2024 Nov;
15(12):100336.
PMID: 39510254
No abstract available.
8.
Simpson K, Offord S, Suares C, Vockley J
Am J Med Genet A
. 2024 Oct;
197(2):e63889.
PMID: 39350662
The metabolic genetics clinic is a crucial hub for the management of patients with inborn errors of metabolism and other complex genetic conditions. Because more patients are being identified due...
9.
Sikirica V, Schwartz E, Vockley J, Stagni K, Bellenger M, Banerjee G, et al.
Mol Genet Metab
. 2024 Sep;
143(1-2):108577.
PMID: 39303317
Background And Objective: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare inborn errors of metabolism with shared signs and symptoms that are associated with significant morbidity and mortality. No...
10.
Marcuzzo M, de Andrade Silveira J, Streck E, Vockley J, Leipnitz G
Mol Neurobiol
. 2024 Sep;
PMID: 39251562
Inherited metabolic disorders (IMDs) are genetic disorders often characterized by the accumulation of toxic metabolites in patient tissues and bodily fluids. Although the pathophysiologic effect of these metabolites and their...