Results 101 to 110 of about 7,143 (200)

Hematopoietic stem cell transplantation in pediatric patients with type VI mucopolysaccharidosis [PDF]

Clinical and Experimental Pediatrics
Background It is uncertain whether hematopoietic stem cell transplantation (HSCT), versus standard enzyme replacement therapy (ERT), is effective for type VI mucopolysaccharidosis (MPS VI).
Vedat Uygun, Koray Yalçın, Hayriye Daloğlu, Seda Öztürkmen, Suna Çelen, Suleimen Zhumatayev, Gülsün Karasu, Akif Yeşilipek   +7 more
doaj   +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

Plan de cuidados de enfermería y recomendaciones al alta en el paciente pediátrico con mucopolisacaridosis [PDF]

, 2016
Las Mucopolisacaridosis son un conjunto de enfermedades metabólicas hereditarias en las que existe un déficit de una de las once enzimas lisosomales que intervienen en el catabolismo de los glucosaminoglicanos, que se acumulan en los lisosomas de las ...
Urueña Valle, Sandra
core  

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

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  

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
core  

Mucopolysaccharidoses (MPS) [PDF]

Journal of Inherited Metabolic Disease, 2013
openaire   +2 more sources

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  

2024 SMFM Global Congress Abstracts

Pregnancy, Volume 1, Issue 2, March 2025.
wiley   +1 more source

Best abstracts from the APAGBI Annual Scientific Meeting 2024

Pediatric Anesthesia, Volume 35, Issue 2, Page 185-191, February 2025.
wiley   +1 more source