Results 1 to 10 of about 935 (119)

Glutaryl-CoA dehydrogenase (GCDH) enhances renal malignancy risk via modulating glutarylcarnitine levels [PDF]

Discover Oncology
Background Crotonylation, a recently identified lysine acylation, plays a critical role in post-translational modifications [1]. It has been implicated in tumorigenesis by modulating metabolic reprogramming [2], DNA repair, immune evasion [3], and ...
Xuanshuo Liu, Bohua Chen, Jianghao Yuan, Shuhao Li, Lei Gao, Mingyan Chu, Shicang Fan, Weiwei Fan   +7 more
doaj   +4 more sources

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails [PDF]

Italian Journal of Pediatrics
Background Glutaric aciduria type I (GA-I) is an autosomal recessive disorder affecting the metabolism of lysine, hydroxylysine, and tryptophan. Patients present in the first age of life with an irreversible motor disorder, and neuroradiological imaging ...
Vincenza Gragnaniello, Andrea Puma, Daniela Gueraldi, Ignazio D’Errico, Chiara Cazzorla, Christian Loro, Elena Porcù, Leonardo Salviati, Alberto B. Burlina   +8 more
doaj   +4 more sources

Exploration of serum biomarkers in heart failure patients with preserved and reduced ejection fractions through analysis of heterogeneity [PDF]

Biochemistry and Biophysics Reports
Background: Heart failure with preserved ejection fraction (HFpEF) and heart failure with reduced ejection fraction (HFrEF) differ markedly in their pathophysiology.
Qipeng Jin, Zhicheng Wang, Wenyong Lin, Chunling Zhang, Xiaolong Wang   +4 more
doaj   +2 more sources

Gut microbiota, circulating metabolites, and pancreatic cancer risk: a multi-method causal inference study with cross-population validation [PDF]

Frontiers in Microbiology
Pancreatic cancer (PC) is a lethal malignancy with limited early detection strategies and poor therapeutic response. Emerging evidence implicates the gut microbiota in carcinogenesis, yet whether microbial alterations are causal or secondary remains ...
Shicheng Lin, Enze Shi, Yuxin Zhang, Xiaofan Wang, Zhen Tian, Jing Han, Quanwang Li   +6 more
doaj   +2 more sources

Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy [PDF]

Molecular Genetics and Metabolism Reports
Introduction: Ethylmalonic encephalopathy (EE) is an often-severe inborn error of metabolism caused by biallelic variants in the ETHE1 gene leading to impaired detoxification of hydrogen sulfide (H2S).
Steven H. Lang, Andres Caceres Salgado, Matthew T. Snyder, Brandy Rawls-Castillo, Aaron Williams, Charul Gijavanekar, Sarah H. Elsea, Xia Wang, Mary Elizabeth M. Tessier, Claudia Soler-Alfonso, Fernando Scaglia   +10 more
doaj   +2 more sources

Serum Metabolomic Response to Long-Term Supplementation with all-rac-α-Tocopheryl Acetate in a Randomized Controlled Trial [PDF]

Journal of Nutrition and Metabolism, 2016
Background. The Alpha-Tocopherol, Beta-Carotene Cancer Prevention (ATBC) Study, a randomized controlled cancer prevention trial, showed a 32% reduction in prostate cancer incidence in response to vitamin E supplementation.
Alison M. Mondul, Steven C. Moore, Stephanie J. Weinstein, Anne M. Evans, Edward D. Karoly, Satu Männistö, Joshua N. Sampson, Demetrius Albanes   +7 more
doaj   +3 more sources

Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study [PDF]

Scientific Reports
Organic acidemias (OADs) are a group of congenital metabolic disorders whose incidence, disease spectrum, and genetic profiles differ greatly across countries. This study aimed to determine the characteristics of OADs in Quanzhou, China.
Yiming Lin, Chunmei Lin, Zhenzhu Zheng, Yanru Chen, Faming Zheng, Weihua Lin   +5 more
doaj   +2 more sources

Circulating serum metabolites as biomarkers and predictors of residual feed intake in lactating dairy cows [PDF]

Scientific Reports
This study explored the potential of circulatory serum metabolite profiles to increase understanding of the physiology of feed efficiency and identify biomarkers to predict residual feed intake (RFI) in lactating Holsteins. Serum metabolite profiles were
Dagnachew Hailemariam, Ghader Manafiazar, Christine Baes, Flavio Schenkel, Filippo Miglior, Paul Stothard, Graham Plastow   +6 more
doaj   +2 more sources

Serum Metabolites Relate to Mucosal and Transmural Inflammation in Paediatric Crohn Disease. [PDF]

J Crohns Colitis
Background and Aims: We aimed to identify serum metabolites associated with mucosal and transmural inflammation in paediatric Crohn disease [pCD].
Suarez RG, Guruprasad N, Tata G, Zhang Z, Focht G, McClement D, Navas-López VM, Koletzko S, Griffiths AM, Ledder O, de Ridder L, Wishart D, Nichols B, Gerasimidis K, Turner D, Wine E.   +15 more
europepmc   +4 more sources

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

Frontiers in Genetics, 2021
PurposeTo characterize the phenotypic and genotypic variations associated with Glutaric aciduria type 1 (GA1) in Chinese patients.MethodsWe analyzed the clinical, neuroradiological, biochemical, and genetic information from 101 GA1 patients in mainland ...
Huishu E., Lili Liang, Huiwen Zhang, Wenjuan Qiu, Jun Ye, Feng Xu, Zhuwen Gong, Xuefan Gu, Lianshu Han   +8 more
doaj   +1 more source