Results 31 to 40 of about 565,458 (146)
Exploration, EarlyView.This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi +5 more
wiley +1 more source
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To evaluate the effectiveness of objective audiological and vestibular assessments in detecting functional changes associated with vitamin B12 deficiency. Data Sources A comprehensive literature search was conducted in PubMed, Scopus, Web of Science, and EMBASE databases.
Nesmah Zainab +2 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk +39 more
wiley +1 more source
Immunity, Inflammation and Disease, Volume 14, Issue 9, September 2026.Messenger RNA therapeutics are rapidly expanding beyond infectious diseases into oncology, autoimmune disorders, protein replacement therapy, cardiovascular and neurological diseases, and regenerative medicine. Advances in RNA engineering and targeted delivery are driving the development of safe, programmable, and precision therapeutics for diverse ...
Gedion Mengistu Dejen
wiley +1 more source
Biochemical and genetic diagnosis of 287 probands with methylmalonic aciduria.
, 2022 Biochemical and genetic diagnosis of 287 probands with methylmalonic aciduria.
Tongfei Wu (1693510) +19 more
core +1 more source
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1518-1523, July 2026.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri +26 more
wiley +1 more source
PHYSICAL SCIENCES IN THE “REVISTA DE LA ACADEMIA COLOMBIANA DE CIENCIAS”
, 2003 Se incluye un breve análisis sobre la presencia de las ciencias físicas en la "Revista de la Academia Colombiana de Ciencias Exactas, Físicas y Naturales" (RCC) durante el lapso 1936-2002, en el cual se publicaron los primeros 100 números de la Revista.A
Campos Romero, Diógenes
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.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 +9 more
wiley +1 more source
Neuroimaging Finding of Organic Academia in Children [PDF]
, 2012 Organic academia are diverse group of disorders characterized by abnormal degredation of specific amino acid in the specific catabolism due to an enzymeactivity defect which mainly due to enzyme deficiency.
KHATAMI, Alireza
core +1 more source