Results 111 to 120 of about 75,802 (261)

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Urinary and Plasma Profiles of Betamethasone and Triamcinolone Acetonide Following Intra-Articular and Related Administrations. [PDF]

Drug Test Anal
Coll S, Bressan C, Monfort N, Llorente-Onaindia J, Monfort J, Santiago J, Balius R, Brotons D, Ventura R.   +8 more
europepmc   +1 more source

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

Evaluation of surveillance-response interventions for Schistosoma haematobium elimination on Pemba Island, Tanzania: A 4-year intervention study with repeated cross-sectional surveys. [PDF]

PLoS Negl Trop Dis
Trippler L, Hattendorf J, Ali MN, Najim SO, Khamis KS, Suleiman KR, Ame SM, Juma S, Kabole F, Ali SM, Knopp S.   +10 more
europepmc   +1 more source

Miniaturized Conductometric Biosensor for Rapid Detection of TNF‐α in Saliva

Advanced NanoBiomed Research, EarlyView.
A miniaturized conductometric sensor detects TNF‐α at femtomolar levels with high selectivity. The device enables noninvasive testing using pooled human saliva and supports smartphone‐based, real‐time resistance readings. This portable biosensor offers a practical alternative for monitoring TNF‐α, providing new opportunities for diabetes and related ...
Mingjie Yang, Ying Zhi Cheong, Chenglong Xu, Sanje Mahasivam, Xudong Cai, Vipul Bansal, Sharath Sriram, Ganganath Perera, Madhu Bhaskaran   +8 more
wiley   +1 more source

A digital twin framework for forensic reconstruction of alcohol intake via fast and slow metabolite kinetics. [PDF]

Sci Rep
Podéus H, Simonsson C, Jakobsson G, Kronstrand R, Nyman E, Lövfors W, Cedersund G.   +6 more
europepmc   +1 more source

Pharmacokinetics and Safety of a Single Dose of Brensocatib in Participants with Hepatic Impairment and Matched Participants with Normal Hepatic Functions. [PDF]

Clin Pharmacokinet
Usansky H, Au Yeung S, Li S, Marbury T, Lawitz E, Kayali Z, Stein DS.   +6 more
europepmc   +1 more source

Toxicokinetic and Partial Mass Balance Assessment of ¹⁴C-Alpha Olefins in Rats. [PDF]

J Xenobiot
Shi Q, Dunn J, Carrillo JC, Penman MG, Powrie RH, Haines C, Shen H, Tian Y, Jia S, Hubert F, Boogaard PJ.   +10 more
europepmc   +1 more source

Determination of the half-life of di(2-ethylhexyl) phthalate (DEHP) in a preterm neonate using blood transfusion as the source of intravenous exposure. [PDF]

Curr Res Toxicol
Furlong M, Gupta V, Galanti S, Narasimhan S, Pulivarthi D, Andra SS, Stroustrup A.   +6 more
europepmc   +1 more source

Absolute Bioavailability and Absorption, Distribution, Metabolism, and Excretion of [¹⁴C]Xevinapant, a Potent, Oral, Small-Molecule IAP Inhibitor. [PDF]

Clin Pharmacol Drug Dev
Menetrey A, Nicolas-Metral V, Roubaudi-Fraschini MC, Tat T, Zhao Y, Vugmeyster Y, Venkatakrishnan K, Rohdich F, Scheible H.   +8 more
europepmc   +1 more source