Results 211 to 220 of about 334,074 (299)

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

Vitamin C deficiency after kidney transplantation: a cohort and cross-sectional study of the TransplantLines biobank. [PDF]

Eur J Nutr
Yepes-Calderón M, van der Veen Y, Martín Del Campo S F, Kremer D, Sotomayor CG, Knobbe TJ, Vos MJ, Corpeleijn E, de Borst MH, Bakker SJL, TransplantLines Investigators.   +10 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

Vitamin C deficiency presenting as pseudoscleroderma in a pediatric patient with food aversion. [PDF]

JAAD Case Rep
Appiah MM, Bohrer N, Galati A, Vuong C, Tucker SM, Hightower G.   +5 more
europepmc   +1 more source

Distinct Prescription Patterns Emerge Years Before ALS Diagnosis: A Nationwide Registry‐Based Study

Annals of Neurology, EarlyView.
Objective The prodromal phase of amyotrophic lateral sclerosis (ALS) is poorly defined. We aimed to characterize prescription drug use patterns in the pre‐diagnostic period by analyzing nationwide prescription data to identify the earliest divergence between individuals who developed ALS and matched healthy controls.
Magne Haugland Solheim, Trond Riise, Marianna Cortese, Ola Nakken, Ole‐Bjørn Tysnes, Jannicke Igland, Kjetil Bjornevik   +6 more
wiley   +1 more source

Weighing up risk factors for pneumonia: the role of mental illness and benzodiazepine use.

, 2012
Brown, Jeremy Stuart, Quint, Jennifer K
core   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

Advanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari, Yunhui Min, Eun‐Ju Ko, Doyoung Kwon, Rehan Khan, Young‐Ok Son   +5 more
wiley   +1 more source

Polyphenol‐Based Biomaterials Against Cancer Radio/Chemotherapy‐Induced Intestinal Toxicity

Advanced NanoBiomed Research, EarlyView.
Radiotherapy/chemotherapy often causes intestinal toxicity, impairing cancer patients’ quality of life and treatment efficacy. Polyphenols protect against this injury via multiple mechanisms, but face oral use limitations. This review outlines their protective mechanisms and delivery challenges, highlighting recent oral delivery advances and future ...
Jixu Lu, Jing Chen, Ji Zhu, Lixin Ru, Dongxiao Zhang   +4 more
wiley   +1 more source

A Cost‐Effective Hybrid Method For Homogeneous Matrix Coating in Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry Imaging Using Simultaneous Spin and Spray Deposition

Analysis &Sensing, EarlyView.
This study introduces an in‐house spin coater for matrix‐assisted laser desorption/ionization mass spectrometry imaging, providing homogeneous matrix deposition via simultaneous spray and spin. The approach yields reproducible signals and clear metabolite distributions in complex tissues.
Lanaia Ítala Louzeiro Maciel, Jussara Valente Roque, Almir Custodio Batista Junior, Gabriel Henry Morais Dufrayer, Naará da Silva Balbino, Keilah Valéria Naves Cavalcante, Marcos Divino Ferreira Junior, Andrea Rodrigues Chaves, Boniek Gontijo Vaz   +8 more
wiley   +1 more source

Characteristic Skin Eruptions with a Distinct Histological Pattern Allow Early Diagnosis of Vitamin C Deficiency. [PDF]

Case Rep Dermatol
Mirkovic G, Mutke MR, Muehleisen B.
europepmc   +1 more source