Results 71 to 80 of about 14,004 (249)

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase [PDF]

, 2013
Background: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; MPS VI) is an autosomal recessive lysosomal storage disorder in which deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B; ARSB) leads to the storage of glycosaminoglycans ...
Brands, M.M.M.G. (Marion), Grinberg, D. (Daniel), Halley, D.J.J. (Dicky), Hoogeveen-Westerveld, M. (Marianne), Kroos, M.A. (Marian), Nobel, W. (Willemieke), Ozkan, L. (Lale), Ploeg, A.T. (Ans) van der, Plug, I. (Iris), Reuser, A.J.J. (Arnold), Ruijter, G.J.G. (George), Vilageliu, L. (Lluïsa)   +11 more
core   +4 more sources

The Human Cardiac “Age‐OME”: Age‐Specific Changes in Myocardial Molecular Expression

Aging Cell, Volume 24, Issue 11, November 2025.
A multi‐omics analysis was performed to uncover the molecular landscape of human cardiac ageing. We report several insights for the first time: a decrease in proteins composing the structural machinery of the heart; a likely compensatory increase in energetic flux and redox reductive capacity; and an increase in lysosomal activity.
Cassandra Malecki, Giovanni Guglielmi, Benjamin Hunter, Dylan Harney, Yen Chin Koay, Anthony. S. Don, Oscar Han, Jasmine Khor, Lisa Nguyen, Michael Pan, Peter Gawthrop, Nathan Isles, Joshua Chung, Robert. D. Hume, Matthew Taper, XiaoSuo Wang, Mark Larance, Fabian Spill, Vijay Rajagopal, John F. O’Sullivan, Sean Lal   +20 more
wiley   +1 more source

Biochar-Based Granular Fertilizers with Agro-Industrial Binders Enhance Enzymatic Activity and Nutrient Cycling in Tropical Oxisols

Agronomy
The low fertility of tropical Oxisols challenges sustainable agriculture. While biochar-based granular fertilizers (BBGFs) offer a solution, the influence of different organic binders is unclear. This study investigated how BBGFs formulated with bio-oil (
José Mendes dos Santos Júnior, Luiz Arnaldo Fernandes, Fernando Colen, Leidivan Almeida Frazão, Rodinei Facco Pegoraro   +4 more
doaj   +1 more source

A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity

Genetics and Molecular Biology, 2012
A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation.
Osvaldo Artigalás, Giorgio Paskulin, Mariluce Riegel, Maira Burin, Maria Luiza Saraiva-Pereira, Sharbel Maluf, Andrea Kiss, Ida Vanessa D. Schwartz   +7 more
doaj   +1 more source

Kroppenstedtia pulmonis sp. nov. and Kroppenstedtia sanguinis sp. nov., isolated from human patients [PDF]

, 2016
Three human clinical strains (W9323T, X0209T and X0394) isolated from lung biopsy, blood and cerebral spinal fluid, respectively, were characterized using a polyphasic taxonomic approach.
AF Yassin, AF Yassin, AN Addou, AP Barker, BA Lasker, Brent A. Lasker, Catherine Spröer, Clinical and Laboratory Standards Institute, Clinical and Laboratory Standards Institute, Clinical and Laboratory Standards Institute, D Berd, DE Minnikin, EM Zhou, G Yang, Hans-Peter Klenk, J Felsenstein, J Ley De, JL Staneck, JP Meier-Kolthoff, June M. Brown, LE Rhuland, Lesley Hoyles, M Jan von, M Kim, M Mesbah, M Sasser, Melissa E. Bell, MP Lechevalier, P Cashion, Peter Schumann, PS Conville, PS Conville, RM Kroppenstedt, RS Weyant, S Klatte, SN Buss, TT Yu, VAR Huss, Y Matsuo, Y Zhang   +39 more
core   +2 more sources

Diagnosis and treatment of occipital brain lesions in children

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini   +4 more
wiley   +1 more source

Organic Matter Regulates Ammonia-Oxidizing Bacterial and Archaeal Communities in the Surface Sediments of Ctenopharyngodon idellus Aquaculture Ponds

Frontiers in Microbiology, 2018
Ammonia-oxidizing bacteria (AOB) and archaea (AOA) play important roles in nitrogen removal in aquaculture ponds, but their distribution and the environmental factors that drive their distribution are largely unknown.
Lili Dai, Lili Dai, Chengqing Liu, Chengqing Liu, Liqin Yu, Chaofeng Song, Liang Peng, Xiaoli Li, Ling Tao, Gu Li   +9 more
doaj   +1 more source

Edinger-Westphal Nucleus [PDF]

, 2008
This report contains a summary of expression patterns for genes that are enriched in the Edinger-Westphal nucleus (EW) of the midbrain. All data are derived from the Allen Brain Atlas (ABA) in situ hybridization mouse project.
Allen Institute for Brain Science, Angela L. Guillozet-Bongaarts, Josh J. Burnell, Lydia L. Ng   +3 more
core   +2 more sources

Rapid and Simple Dispersive Liquid–Liquid Microextraction (DLLME) Sample Preparation for Propofol Analysis in Hair, Blood, and Urine by Gas Chromatography–Mass Spectrometry

Drug Testing and Analysis, Volume 17, Issue 9, Page 1528-1536, September 2025.
Development and validation of an extraction method based on dispersive liquid–liquid microextraction for the analysis by GC–MS of propofol in three different biological samples (blood, urine, and hair). The proposed method is very simple and rapid.
Sara Odoardi, Serena Mestria, Valeria Valentini, Giulia Biosa, Sabina Strano Rossi   +4 more
wiley   +1 more source

Characterization of iodothyronine sulfatase activities in human and rat liver and placenta [PDF]

, 2002
In conditions associated with high serum iodothyronine sulfate concentrations, e.g. during fetal development, desulfation of these conjugates may be important in the regulation of thyroid hormone homeostasis. However, little is known
Coughtrie, M.W., Dijk, C.H. (Caren) van, Kaptein, E. (Ellen), Kester, M.H.A. (Monique), Roest, T.J. (Thirza), Tibboel, D. (Dick), Visser, T.J. (Theo)   +6 more
core   +3 more sources