Results 221 to 230 of about 56,286 (316)

Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders. [PDF]

Biomedicines
Vinci M, Zizzo C, Moschetti M, Giacomarra M, Anania M, Duro G, Di Chiara T, Russo M, Messina E, Colomba P, Duro G.   +10 more
europepmc   +1 more source

Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders [PDF]

, 2018
Philipp Skrinjar, Markus Schwarz, Stefan Lexmüller, Thomas P. Mechtler, Maximilian Zeyda, Susanne Greber‐Platzer, Joe Trometer, David C. Kasper, Hannes Mikula   +8 more
openalex   +1 more source

Biomarkers for the estimation of isoproterenol‐induced myocardial infarction: A review of key parameters

Journal of Intelligent Medicine, EarlyView.
Abstract The isoproterenol‐induced myocardial infarction model is a well‐established experimental approach for studying cardiac injury and testing potential protective treatments. By overstimulating beta‐adrenergic receptors, this model closely reproduces key features of human heart attacks, including oxidative damage, calcium imbalance, inflammatory ...
Bushra Imran, Tarique Mahmood, Farogh Ahsan, Shahzadi Bano, Vaseem Ahamad Ansari, Mohd Adnan   +5 more
wiley   +1 more source

Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking into Cell-Free Therapies for Bone-Affected Lysosomal Storage Disorders. [PDF]

Int J Mol Sci
Leal AF, Pachajoa H, Tomatsu S.
europepmc   +1 more source

A set of serum proteomic biomarkers differentiates celiac children from age and human leukocyte antigen‐matched healthy controls

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objective The latest European Society of Gastroenterology Hepatology and Nutrition (ESPGHAN) criteria for celiac disease (CD) diagnosis reduced the requirement for a small intestinal biopsy but still, for most of the cases a small intestinal biopsy is required for a safe diagnosis: hence the attempt to identify serum biomarkers that could ...
Roberta Mandile, Michele Francesco di Tolla, Martina Carpinelli, Janneke Nicoline Samsom, Rossella De Cegli, Maria Vittoria Barone, Riccardo Troncone, Pietro Formisano, Luigi Greco, Renata Auricchio   +9 more
wiley   +1 more source

Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches. [PDF]

Mamm Genome
Marcó S, Muñoz S, Bosch F, Jimenez V.
europepmc   +1 more source

Label-free multiplex electrochemical immunosensor for early diagnosis of lysosomal storage disorders. [PDF]

Sci Rep, 2022
Abdulkarim H, Siaj M.
europepmc   +1 more source

Ocular Features of Treatable Lysosomal Storage Disorders—Fabry Disease, Mucopolysaccharidoses I, II and VI and Gaucher Disease [PDF]

, 2012
Ines Lanzl, Bart P. Leroy
openalex   +1 more source

Parkinson's‐Linked LRRK2 and GBA1 Mutations Modulate the Peripheral Immune Response to Pseudomonas aeruginosa

Movement Disorders, EarlyView.
Abstract Background Peripheral disease mechanisms such as immune dysregulation may contribute to Parkinson's disease (PD). To investigate interactions between common PD mutations and immune responses to environmental pathogens, we studied responses to Pseudomonas aeruginosa (P.
Julian R. Mark, Hannah A. Staley, Ann M. Titus, Julian Agin‐Liebes, Alicia Garrido, Laura Hughes, Nicolas Dzamko, Rebecca L. Wallings, Malú Gámez Tansey   +8 more
wiley   +1 more source

Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders. [PDF]

J Inherit Metab Dis
Simonaro CM, Yasuda M, Schuchman EH.
europepmc   +1 more source