ARTICLES

Filter  
Active filters 0
Remove
  

Refine your searches by:

Collections
Public health
Research
Medicine / Sub specialtie
Pure sciences
Architecture and Urbanism
Biology
Education
Medicine / Cardiology
Medicine / Pediatrics
Social work
all records (12)

Languages
English

Countries
Brazil
USA
South Africa
Slovenia
Indonesia
Macedonia
Russia

Years
2022
2020
2019
2018
2017
2016
2014
2012
2008

Filter  
 
15  Articles
1 of 3 pages  |  10  records  |  more records»
Mucopolysaccharidoses are a group of lysosomal storage diseases. Their common feature is the lack of enzymes that break down glycosaminoglycans, polysaccharides that bind to proteoglycans and form the extracellular matrix. Because there are no enzymes tha... see more

Morquio's disease belongs to the group of mucopolysaccharidosis which causes deformities of the bones. The diagnosis is made by radiological examinations and others such as biochemical examination.Four cases of Morquio's disease are presented, which are t... see more

Mucopolysaccharidosis is a rare, multisystemic, progressive disease that has no cure. The objectives ofthis study were to describe the clinical, radiographic and anatomical and pathological findings of a case ofmucopolysaccharidosis in a dog. It reports t... see more

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to deficiency of alpha-L-iduronidase (IDUA). Limitations such as need of weekly injection, high morbidity and mortality  and high cost of the current treatments show the need fo... see more

Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that ... see more

Metabolic phenotyping is poised as a powerful and promising tool for biomarker discovery in inherited metabolic diseases. However, few studies applied this approach to mcopolysaccharidoses (MPS). Thus, this innovative functional approach may unveil compre... see more


Congenital corneal clouding often causes diagnostic dilemma; hence, detailed evaluation and timely intervention are required to decrease the morbidity. Various genetic, developmental, metabolic, and idiopathic causes of congenital corneal clouding include... see more

Objetivos: Refletir sobre a assistência de enfermagem ao paciente portador de mucopolissacaridose do tipo II e levantar os principais diagnósticos de enfermagem e intervenções de enfermagem frente ao caso. Metodologia: Trata-se de um relato de experiência... see more

1 of 3 pages  |  10  records  |  more records»