Roy W A Peake
Overview
Explore the profile of Roy W A Peake including associated specialties, affiliations and a list of published articles.
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Articles
54
Citations
231
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Recent Articles
1.
Guarino B, Ptolemy A, Baum M, Palma M, Kellogg M, Peake R
Clin Chem
. 2025 Jan;
71(1):31-34.
PMID: 39749510
No abstract available.
2.
Almontashiri N, Alharby E, Saleh M, Abu-Farha M, Alasmari A, Gebbia M, et al.
Clin Genet
. 2024 Oct;
107(2):201-207.
PMID: 39401966
Malate is an important dicarboxylic acid produced from fumarate in the tricarboxylic acid cycle. Deficiencies of fumarate hydrolase (FH) and malate dehydrogenase (MDH), responsible for malate formation and metabolism, respectively,...
3.
Garrett R, Ptolemy A, Pickett S, Kellogg M, Peake R
Clin Chem
. 2024 Oct;
70(12):1452-1462.
PMID: 39365746
Background: Untargeted metabolomics has shown promise in expanding screening and diagnostic capabilities for inborn errors of metabolism (IEMs). However, inter-batch variability remains a major barrier to its implementation in the...
4.
Ptolemy A, Peake R, Kellogg M
Methods Mol Biol
. 2023 Nov;
2737:33-41.
PMID: 38036808
Epilepsy is characterized by abnormal electrical discharges in the brain that result in unprovoked seizures. Pharmacotherapy with antiepileptic drugs (AED) can help control the incidence of epileptic seizures. AED therapeutic...
5.
de Moraes M, de Souza H, de Oliveira M, Peake R, Scalco F, Garrett R
Metabolomics
. 2023 Mar;
19(4):29.
PMID: 36988742
Introduction: Pompe disease is a rare, lysosomal disorder, characterized by intra-lysosomal glycogen accumulation due to an impaired function of α-glucosidase enzyme. The laboratory testing for Pompe is usually performed by...
6.
Torres C, Scalco F, de Oliveira M, Peake R, Garrett R
Clin Chim Acta
. 2023 Feb;
541:117250.
PMID: 36764508
Background: Mucopolysaccharidoses (MPSs) are inherited genetic diseases caused by an absence or deficiency of lysosomal enzymes responsible for catabolizing glycosaminoglycans (GAGs). Undiagnosed patients, or those without adequate treatment in early...
7.
Faqeih E, Alghamdi M, Almahroos M, Alharby E, Almuntashri M, Alshangiti A, et al.
Genet Med
. 2022 Nov;
25(2):100323.
PMID: 36401616
Purpose: Pathogenic variants in genes encoding ubiquitin E3 ligases are known to cause neurodevelopmental syndromes. Additional neurodevelopmental disorders associated with the other genes encoding E3 ligases are yet to be...
8.
AlFaris H, Rahbeeni Z, Peake R, Almontashiri N
Clin Chem
. 2022 Mar;
67(6):912-914.
PMID: 35265964
No abstract available.
9.
10.
Ortega R, Bodamer O, Peake R, Raymond D, Bressman S, Saunders-Pullman R
Mov Disord
. 2022 Feb;
37(3):655-656.
PMID: 35106836
No abstract available.