Results 111 to 120 of about 8,642 (245)

α-l-iduronidase gene-based therapy using the phiC31 system to treat mucopolysaccharidose type I mice [PDF]

, 2015
Roberta Sessa Stilhano, Priscila Keiko Matsumoto Martin, Suely Maymone de Melo, Vívian Yochiko Samoto, Giovani Bravin Peres, Yára M. Michelacci, Flávia Helena da Silva, Vanessa Gonçalves Pereira, Vânia D’Almeida, Adriana Taveira da Cruz, Miriam Galvonas Jasiulionis, Sang Won Han   +11 more
openalex   +1 more source

Radiological and Neuroradiological Features in Pediatric Mucopolysaccharidoses: A Retrospective Case Series from the Emilia-Romagna Regional Referral Center

Applied Sciences
Background: Mucopolysaccharidoses (MPSs) are rare lysosomal storage disorders characterized by multisystem involvement; notably, skeletal abnormalities known as dysostosis multiplex and varying degrees of central nervous system impairment.
Giovanni Silva, Elisa Bortolamedi, Michelangelo Baldazzi, Francesco Toni, Rita Ortolano, Egidio Candela, Giacomo Biasucci, Marcello Lanari, Federico Baronio   +8 more
doaj   +1 more source

Diagnosis and Management of Genetic Causes of Middle Aortic Syndrome in Children: A Comprehensive Literature Review

Therapeutics and Clinical Risk Management, 2022
Cecilia Lazea,1,2 Camelia Al-Khzouz,1,3 Crina Sufana,2 Diana Miclea,3,4 Carmen Asavoaie,5 Ioana Filimon,5 Otilia Fufezan5 1Department Mother and Child, University of Medicine and Pharmacy “Iuliu Hatieganu”, Cluj-Napoca, Romania; 2Department of Pediatrics
Lazea C, Al-Khzouz C, Sufana C, Miclea D, Asavoaie C, Filimon I, Fufezan O   +6 more
doaj  

126. Non-Viral Gene Therapy By Liver-Directed Hydrodynamic Delivery of Sleeping Beauty Transposons to Treat Hemophilia and Mucopolysaccharidoses in Dogs [PDF]

, 2015
Perry B. Hackett, Elena L. Aronovich, Jason Bell, Myra Rusten, David W. Hunter, Bryan C. Hall, Erik R. Olson, Kendra A. Hyland, N. Matthew Ellinwood, R. Scott McIvor   +9 more
openalex   +1 more source

Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies

Frontiers in Public Health
IntroductionMucopolysaccharidoses (MPS) constitute a group of progressive and multisystemic inherited metabolic diseases that profoundly affect both the mental health of patients and the wellbeing of their families. This study aims to evaluate the impact
Daniel Almeida do Valle, Daniel Almeida do Valle, Daniel Almeida do Valle, Tiago dos Santos Bara, Tiago dos Santos Bara, Vanessa Furlin, Vanessa Furlin, Mara Lúcia Schmitz Ferreira Santos, Mara L. Cordeiro, Mara L. Cordeiro, Mara L. Cordeiro   +10 more
doaj   +1 more source

Genetically modulated Substrate Reduction Therapy for Mucopolysaccharidoses – in vitro studies [PDF]

, 2017
Mucopolysaccharidoses (MPSs) are caused by dysfunction in enzymes responsible for the intralysosomal degradation of glycosaminoglycans (GAGs). We have designed an RNA-based strategy based upon the selective downregulation of genes involved in the ...
Alves, Sandra, Coutinho, Maria Francisca, Gaspar, Paulo, Santos, Juliana Inês   +3 more
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Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis [PDF]

, 2017
Liu Yang, Fan Yi, Arun Kumar, Naveen Kumar Chennamaneni, Xinying Hong, C. Ronald Scott, Michael H. Gelb, František Tureček   +7 more
openalex   +1 more source

Treatment of Neurological Manifestations of Mucopolysaccharidoses: Translational Considerations in Drug Development [PDF]

, 2020
Anita Grover, Charles O’Neill, Simon Jones   +2 more
openalex   +1 more source

Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses - an evaluation [PDF]

, 2007
George Gray, Paul Claridge, Linda Jenkinson, Anne Green   +3 more
openalex   +1 more source

Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]

, 2013
Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
core