Results 11 to 20 of about 21,161 (167)
Audiologic evaluations of children with mucopolysaccharidosis [PDF]
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
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
Análisis genético y molecular del síndrome de Maroteaux-Lamy [PDF]
, 2008 [spa] Esta tesis es una contribución al conocimiento del síndrome de Maroteux-Lamy en el terreno de la genética molecular. El síndrome de Maroteaux-Lamy o mucopolisacaridosis de tipo VI (MPS VI) es una grave enfermedad hereditaria muy poco frecuente en ...
Garrido Fernández, Elena
core +6 more sources
Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know
Diagnostics, 2022 Mucopolysaccharidosis (MPS) is a group of disorders caused by the reduced or absent activity of enzymes involved in the glycosaminoglycans (GAGs) degradation; the consequence is the progressive accumulation of the substrate (dermatan, heparan, keratan or
Stefania Costi +2 more
doaj +1 more source
Biomedicines, 2021 Lysosomal storage disorders (LSDs) represent a complex and heterogeneous group of rare genetic diseases due to mutations in genes coding for lysosomal enzymes, membrane proteins or transporters.
Laura Rigon +4 more
doaj +1 more source
Frontiers in Molecular Biosciences, 2021 Nonrandomized studies are usually excluded from systematic reviews. This could lead to loss of a considerable amount of information on rare diseases. In this article, we explore the impact of excluding nonrandomized studies on the generalizability of ...
Miguel Sampayo-Cordero +11 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
Pharmaceuticals, 2023 Mucopolysaccharidoses (MPS) are a group of rare, heterogeneous, lysosomal storage disorders. Patients show a broad spectrum of clinical features with a substantial unmet medical need.
Anna-Maria Wiesinger +2 more
doaj +1 more source
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