Results 141 to 150 of about 21,042 (237)

Influence of Initial Clinical Guidance on the Diagnostic Yield by Laboratory Enzymatic Testing in Lysosomal Storage Disorders. Experience from a Multispecialty Hospital

, 2022
Clara Carnicer-Cáceres, Yolanda Villena-Ortiz, Laura Castillo‐Ribelles, Raquel Barquín-del-Pino, María Camprodón-Gómez, Ana Felipe‐Rucián, David Moreno-Martínez, Sara Lucas Del Pozo, Jorge Hernández‐Vara, Ariadna Tigri-Santiña, Marc Moltó‐Abad, Irene Agraz, José F. Rodríguez‐Palomares, Javier Limeres Freire, Marc Macaya-Font, Vı́ctor Rodrı́guez-Sureda, Lucy Dougherty De Miguel, Mireia del-Toro-Riera, Guillem Pintos‐Morell, Jose Antonio Arranz-Amo   +19 more
openalex   +1 more source

Navigating Solute Carrier Transporters—A Comprehensive Review of Functionalized Small Molecule Probes for Target Identification and Characterization

Medicinal Research Reviews, EarlyView.
ABSTRACT Solute carrier transporters (SLCs) are integral membrane proteins that play pivotal roles in maintaining cellular homeostasis by mediating the transport of a diverse range of substrates across cell membranes. With their involvement in fundamental physiological processes such as nutrient uptake, neurotransmitter signaling, and drug transport ...
Majlen A. Dilweg, Tracie Widjaja, Adriaan P. IJzerman, Daan van der Es   +3 more
wiley   +1 more source

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report. [PDF]

BJR Case Rep
Bhat S, Sharma S, Bhat S, Kaul A.
europepmc   +1 more source

Mutation identification of Fabry disease in families with other lysosomal storage disorders [PDF]

, 2012
Anna Zampetti, Luca Fania, Daniela Antuzzi, Federica Giurdanella, Maria Gnarra, Francesca Bertola, Susanna Lualdi, Mirella Filocamo, Amelia Morrone, Claudio Feliciani   +9 more
openalex   +1 more source

Biomass‐Derived Hetero Atom‐Doped Porous Carbon for Enhanced CO2 Adsorption

MetalMat, EarlyView.
This review discusses the synthesis and characterization of the heteroatom (N, S, P, O, B)‐doped porous carbon materials which are specifically designed for the CO2 capture and CO2 conversion to value‐added products. ABSTRACT The emission of carbon dioxide (CO2) and its impact on global warming have shown exponential growth in recent decades.
Aniruddha B. Patil, Vijaya K. Patil, Bhalchandra M. Bhanage   +2 more
wiley   +1 more source

Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models. [PDF]

Sci Transl Med
Ziółkowska EA, Jansen MJ, Williams LL, Wang SH, Eultgen EM, Takahashi K, Le SQ, Nelvagal HR, Sharma J, Sardiello M, DeBosch BJ, Dickson PI, Anderson JB, Sax SE, Wright CM, Bradley RP, Whiteman IT, Makita T, Grider JR, Sands MS, Heuckeroth RO, Cooper JD.   +21 more
europepmc   +1 more source

Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder. [PDF]

JCI Insight, 2019
Ahrens-Nicklas RC, Tecedor L, Hall AF, Lysenko E, Cohen AS, Davidson BL, Marsh ED.   +6 more
europepmc   +1 more source

Lysosomal Storage Disorders and Malignancy [PDF]

, 2017
Gregory M. Pastores, Derralynn Hughes
openalex   +1 more source

Bifidobacteria and Celiac Disease: Mechanisms of Probiotic Action in Reducing Gluten‐Induced Cytotoxicity and Inflammation

Molecular Nutrition &Food Research, EarlyView.
Celiac disease (CD) is triggered by gluten in genetically predisposed individuals and is mainly treated with a gluten‐free diet. However, symptoms may persist. This review explores how certain Bifidobacterium strains may reduce inflammation and gluten toxicity through six mechanisms, including modulation of immune responses and gut microbiota.
Taynara Cipriano Scherer, Ivan De Marco, Natália Regina Coldebella Ferreira, Tatiana Colombo Pimentel, Marciane Magnani, Guilherme de Souza Hassemer, Amanda Bagolin do Nascimento, Silvani Verruck   +7 more
wiley   +1 more source

Lysosomal storage disorder gene variants in multiple system atrophy. [PDF]

Brain, 2018
Pihlstrøm L, Schottlaender L, Chelban V, MSA Exome Consortium, Meissner WG, Federoff M, Singleton A, Houlden H.   +7 more
europepmc   +1 more source