Gerard Berry
Overview
Explore the profile of Gerard Berry including associated specialties, affiliations and a list of published articles.
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Articles
13
Citations
216
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0
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Recent Articles
1.
Wu C, Patel I, Lovrenert K, Eisner B, Meeks N, Chun-Hui Tsai A, et al.
Genet Med
. 2024 Sep;
27(1):101281.
PMID: 39315525
Purpose: Cystine stones, an autosomal recessive disorder caused by cystinuria, result from pathogenic variants of SLC3A1 and SLC7A9. Previous publications revealed that clinical prevalence is higher than genetically predicted prevalence....
2.
Hong X, Edmondson A, Strong A, Pomerantz D, Michl E, Berry G, et al.
Mol Genet Metab
. 2023 Aug;
140(3):107682.
PMID: 37597336
We report a patient with an extremely rare, combined diagnosis of PMM2-CDG and hereditary fructose intolerance (HFI). By comparing with other patients, under-galactosylation was identified as a feature of HFI....
3.
Vockley J, Burton B, Berry G, Longo N, Phillips J, Sanchez-Valle A, et al.
J Inherit Metab Dis
. 2023 Jun;
46(5):943-955.
PMID: 37276053
Long-chain fatty acid oxidation disorders (LC-FAODs) result in life-threatening energy metabolism deficiencies/energy source depletion. Triheptanoin is an odd-carbon, medium chain triglyceride (that is an anaplerotic substrate of calories and fatty...
4.
Godfrey D, Torres A, Heidary G, Zahoor H, Lee A, Berry G, et al.
Ophthalmic Genet
. 2021 May;
42(5):612-614.
PMID: 33949289
: Duane retraction syndrome and arthrogryposis multiplex congenita have an incidence of approximately 1:1500-1:3000 live births. However, the association of these two entities with a Marcus-Gunn might be a rare...
5.
Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
McGraw C, Mahida S, Jayakar P, Koh H, Taylor A, Resnick T, et al.
Ann Clin Transl Neurol
. 2021 Jan;
8(3):716-722.
PMID: 33497533
We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5...
6.
Vockley J, Burton B, Berry G, Longo N, Phillips J, Sanchez-Valle A, et al.
J Inherit Metab Dis
. 2020 Sep;
44(1):253-263.
PMID: 32885845
Long-chain fatty acid oxidation disorders (LC-FAOD) are autosomal recessive conditions that impair conversion of long-chain fatty acids into energy, leading to significant clinical symptoms. Triheptanoin is a highly purified, 7-carbon...
7.
Verheijen J, Wong S, Rowe J, Raymond K, Stoddard J, Delmonte O, et al.
J Allergy Clin Immunol
. 2019 Nov;
145(3):1008-1011.
PMID: 31775018
No abstract available.
8.
Glushko T, Kushchayev S, Trifanov D, Salei A, Morales D, Berry G, et al.
J Comput Assist Tomogr
. 2017 Sep;
42(2):230-235.
PMID: 28937487
Hepatomegaly and elevated liver enzymes in patients with diabetes are commonly associated with fatty liver disease. However, physicians often forget about another intrinsic substance that can cause a similar clinical...
9.
Van Steenbergen A, Balteau M, Ginion A, Ferte L, Battault S, De Meester de Ravenstein C, et al.
Sci Rep
. 2017 Jan;
7:41166.
PMID: 28128227
Hyperglycemia (HG) stimulates the production of reactive oxygen species in the heart through activation of NADPH oxidase 2 (NOX2). This production is independent of glucose metabolism but requires sodium/glucose cotransporters...
10.
Balakrishnan B, Chen W, Tang M, Huang X, Cakici D, Siddiqi A, et al.
Biochem Biophys Res Commun
. 2016 Jan;
470(1):205-212.
PMID: 26773505
The vital importance of the Leloir pathway of galactose metabolism has been repeatedly demonstrated by various uni-/multicellular model organisms, as well human patients who have inherited deficiencies of the key...