Results 51 to 60 of about 22,801 (226)

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II [PDF]

, 2011
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS).
Latifa Chkioua, Souhir Khedhiri, Salima Ferchichi, Rémy Tcheng, Henda Chahed, Roseline Froissart, Christine Vianey-Saban, Sandrine Laradi, Abdelhedi Miled   +8 more
core   +2 more sources

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. [PDF]

, 2017
Mucopolysaccharidosis I and II are lysosomal storage disorders that, despite treatment with hematopoietic cell transplantation (HCT) and/or enzyme replacement therapy (ERT), continue to cause significant skeletal abnormalities leading to pain, stiffness,
Dickson, Patricia, Kunin-Batson, Alicia, Polgreen, Lynda E, Rudser, Kyle, Utz, Jeanine J, Vehe, Richard K, Whitley, Chester B   +6 more
core   +3 more sources

Quantification of Dehydroepiandrosterone, 17β-Estradiol, Testosterone, and Their Sulfates in Mouse Tissues by LC-MS/MS. [PDF]

, 2019
We report a high-performance, liquid chromatography/tandem mass spectrometry (HPLC-MS/MS) assay to quantify without derivatizaton dehyroepiandrosterone (DHEA), 17β-estradiol (E2), testosterone (T), and their sulfates in serum and tissues.
Napoli, Joseph L, Yoo, Hong Sik
core  

Structure and functional genes associated with carbon, nitrogen, phosphorus, and sulfur cycling processes in periphyton: A comparison between natural and artificial rivers

River, EarlyView.
Network analysis of functional genes among prokaryotes, and eukaryotes in natural and artificial rivers. Abstract Periphyton in aquatic ecosystems plays vital roles in the elemental cycle process and is vulnerable to anthropogenic interference. However, few studies have explored the elemental cycles of carbon (C), nitrogen (N), phosphorus (P), and ...
Yulu Tian, Jiezhang Mo, Jiaxin Liu, Chenghao Li, Jiahua Guo   +4 more
wiley   +1 more source

Alkyl Sulfatase of Cholera Vibrios

Проблемы особо опасных инфекций, 2023
The aim of the work was to study the structure of the alkyl sulfatase (asu) gene in Vibrio cholerae strains of various serogroups, as well as to compare nucleotide and amino acid sequences of alkyl sulfatases using various methods of bioinformatic ...
O. V. Duvanova, O. A. Podoinitsyna, R. V. Pisanov, S. O. Vodop’yanov, A. S. Vodop’yanov, E. S. Shipko, V. D. Kruglikov, O. S. Chemisova, A. K. Noskov   +8 more
doaj   +1 more source

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core  

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

Development and validation of a fast gas chromatography combustion isotope ratio mass spectrometry method for the detection of epiandrosterone sulfate in urine [PDF]

, 2020
In doping control, to confirm the exogenous origin of exogenously administered anabolic androgenic steroids (AAS), a gas chromatography combustion isotope ratio mass spectrometry (GC-C-IRMS) analysis is performed.
De Wilde, Laurie, Polet, Michaël, Van Eenoo, Peter, Van Renterghem, Pieter   +3 more
core   +1 more source

Activatable smart contrast agents for photoacoustic imaging

Smart Molecules, EarlyView.
This review highlights recent advances in smart activatable photoacoustic imaging (PAI) contrast agents, which dynamically modulate their optical properties in response to external stimuli or microenvironmental cues. It discusses their molecular design, activation mechanisms, biomedical applications, and future prospects for clinically tailored use ...
Donghyeon Oh, Jihye Lee, Suyoung Park, Juyoung Yoon, Won Jong Kim, Chulhong Kim   +5 more
wiley   +1 more source