Results 241 to 250 of about 431,721 (352)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Assessment of Vitamin D Deficiency and its Association with Musculoskeletal Pain in Children.

J Pharm Bioallied Sci
Aijazuddin A, Patidar RC, Sharma S, Yadav A, Tharunkumar JN, Reddy NSB, Mehta M.   +6 more
europepmc   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Association Between Vitamin D Deficiency and the Risk of Diabetic Retinopathy in Patients With Type 2 Diabetes: A Meta-Analysis. [PDF]

Mol Genet Genomic Med
Yu G, Cao C, Shu X, Yao L.
europepmc   +1 more source

Adropin modulates pancreatic cell proliferation and glutathione levels in an animal model of type 1 diabetes mellitus

Animal Models and Experimental Medicine, EarlyView.
Adropin is related to the energy homeostasis‐associated gene. It significantly increased glutathione reductase enzyme levels in the pancreas of experimental diabetic rats. Adropin may reduce the severity of diabetes and its complications. Cell proliferation in the exocrine is reduced after the administration of adropin.
Ifrah I. Ali, Crystal D'Souza, Abderrahim Nemmar, Shreesh Ojha, Ernest A. Adeghate   +4 more
wiley   +1 more source

(Poly)Borylated Species as Modern Reactive Groups toward Unusual Synthetic Applications

Angewandte Chemie, EarlyView.
In this review, we spotlight recent breakthroughs in α‐polyboron‐substituted carbon‐centered intermediates (carbanion, carbocation, radical, and carbene) and polyborylated alkenes. By bridging fundamental reactivity with the application potential of these extraordinary species, we hope this review will serve as a roadmap for harnessing these unique ...
Nadim Eghbarieh, Nicole Hanania, Pinaki Nad, Tipu Alam, Tamir Kish, Ahmad Masarwa   +5 more
wiley   +2 more sources

VITAMIN D DEFICIENCY AND FACTORS OF METABOLIC SYNDROME IN OVERWEIGHT AND OBESE ADOLESCENTS

Anna-Mariia Shulhai, О.М. Shulhai
openalex   +2 more sources

Temporal glomerular gene expression dynamics during disease progression in a mouse model of hypertension‐accelerated diabetic kidney disease

Animal Models and Experimental Medicine, EarlyView.
The current study characterized temporal changes in glomerular gene expression, pathology, and biomarkers in a mouse model of hypertension‐accelerated diabetic kidney disease (DKD). Progressive albuminuria and glomerulosclerosis were paralleled by dynamic transcriptomic changes associated withmetabolic dysfunction, extracellular matrix remodeling, and ...
Adam B. Marstrand‐Jørgensen, Frederikke Emilie Sembach, Maria Ougaard, Ditte Hansen, Mette Viberg Østergaard, Henrik H. Hansen, Louise S. Dalbøge, Ole Jørgen Kaasbøll, Michael Christensen   +8 more
wiley   +1 more source