Results 11 to 20 of about 21,613 (172)
Audiologic evaluations of children with mucopolysaccharidosis
Brazilian Journal of Otorhinolaryngology, 2016 INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG).
Çağil Gökdoğan +7 more
doaj +4 more sources
EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS [PDF]
Педиатрическая фармакология, 2014 Type I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to dissimilar disease phenotypes and varying severity of symptoms.
L. S. Namazova-Baranova +10 more
doaj +2 more sources
Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review [PDF]
Radiology Case Reports, 2021 Mucopolysaccharidosis type 2 is a congenital lysosomal disease characterized by iduronate-2-sulfatase deficiency, which leads to excessive accumulation of glycosaminoglycans in tissue.
Tomoaki Sasaki, MD, PhD +4 more
doaj +3 more sources
Audiometric evaluation in individuals with mucopolysaccharidosis
Clinics, 2018 OBJECTIVES: To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis. METHOD: Fifty-three mucopolysaccharidosis patients were evaluated.
Marcela Rosana Maia da Silveira +4 more
doaj +2 more sources
Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up. [PDF]
J Inherit Metab DisABSTRACT This study investigated long‐term cognitive development and genotype–phenotype relationships in patients with Mucopolysaccharidosis Type II (MPS II). A nationwide prospective cohort study was conducted in the Netherlands with cognitive follow‐up since 2007.
Holdorp JJ +10 more
europepmc +2 more sources
Salivary Metabolites in Patients with Mucopolysaccharidosis [PDF]
, 2023 Objective: To identify the salivary metabolites profile of Mucopolysaccharidosis (MPS) types I, II, IV, and VI patients. Material and Methods:The participants were asked to refrain from eating and drinking for one hour before sampling, performed between ...
Freitas-Fernandes, Liana Bastos +5 more
core +3 more sources
Role of elosulfase alfa in mucopolysaccharidosis IVA [PDF]
, 2016 Debra S Regier, Pranoot Tanpaiboon Division of Genetics and Metabolism, Children’s National Medical Center, Washington, DC, USA Abstract: Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive lysosomal storage disease
Regier, Debra S. +3 more
core +1 more source
EMBO Molecular Medicine, 2020 Mucopolysaccharidosis IIIA is a neuronopathic lysosomal storage disease, characterised by heparan sulphate and other substrates accumulating in the brain.
Helen Parker +13 more
doaj +1 more source
Hearing Loss in Mucopolysaccharidosis
International Archives of Otorhinolaryngology, 2021 Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic clinical ...
Cibele Gomes Bicalho +3 more
doaj +1 more source
Genistein: a natural isoflavone with a potential for treatment of genetic diseases [PDF]
, 2010 Genistein [4 ,5,7-trihydroxyisoflavone or 5,7-dihydroxy-3-(4-hydroxyphenyl)-4H-1-benzopyran-4-one] is a natural isoflavone occurring in many plants known to possess various biological activities, ranging from phyto-oestrogenic to antioxidative actions.
Narajczyk, Magdalena +10 more
core +1 more source