Browsing Health Sciences by Subject "Mucopolysaccharidosis"
Now showing items 1-15 of 15
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Assessing the impact of the five senses on quality of life in mucopolysaccharidoses
(2020) [Journal article]Background: The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multiorgan and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision, ... -
Diagnosing mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity
(2017) [Journal article]Background: Mucopolysaccharidosis type IVA, also known as Morquio A or MPS IV A, is an autosomal recessive disease caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The ... -
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II : 7 years follow-up
(2017) [Journal article]Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, ... -
Evaluation of orofacial motricity in patients with mucopolysaccharidosis : a cross-sectional study
(2009) [Journal article]Objetivo: Caracterizar o sistema estomatognático e as funções estomatognáticas de pacientes com mucopolissacaridose. Métodos: Estudo transversal e observacional de pacientes com mucopolissacaridose atendidos no ambulatório ... -
Genotype-phenotype relationships in mucopolysaccharidosistype I (MPS I) : insights from the International MPS I Registry
(2019) [Journal article]Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resultingfrom pathogenic variants in theα-L-iduronidase (IDUA) gene. Clinical phenotypesrange from severe (Hurler syndrome) to attenuated ... -
Long-term outcomes of systemic therapies for Hurler syndrome : an international multicenter comparison
(2018) [Journal article]Purpose: Early treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate ... -
Mucopolissacaridose tipo I em cão
(2021) [Journal article]Background: Mucopolysaccharidoses (MPS) are a group of rare illnesses caused by deficient activity of enzymes required for degradation of glycosaminoglycans (GAGs). Each type of MPS is caused by mutations in one of the ... -
Mucopolysaccharidoses in northern Brazil : targeted mutation screening and urinary glicosaminoglycan excretion in patients undergoing enzyme replacement therapy
(2011) [Journal article]Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce ... -
Neonatal screening for MPS disorders in Latin America : a survey of pilot initiatives
(2020) [Journal article]Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming ... -
Recommendations for the management of MPS IVA : systematic evidence- and consensus-based guidance
(2019) [Journal article]Introduction: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs ... -
Recommendations for the management of MPS VI : systematic evidence- and consensus-based guidance
(2019) [Journal article]Introduction: Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The ... -
Retracted: an innovative tool for evidence-based, personalized treatment trials in Mucopolysaccharidosi
(2023) [Journal article]Mucopolysaccharidosis (MPS) is a group of rare metabolic diseases associated with reduced life expectancy and a substantial unmet medical need. Immunomodulatory drugs could be a relevant treatment approach for MPS patients, ... -
Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders
(2017) [Journal article]Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs). This case series describes potential complications associated ... -
Severity score system for progressive myelopathy : development and validation of a new clinical scale
(2012) [Journal article]Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was ... -
Visual dysfunction of type I and VI mucopolysaccharidosis patients evaluated with visual evoked cortical potential
(2012) [Journal article]Purpose: To evaluate the visual system of patients suffering from type I or VI mucopolysaccharidosis (MPS) by recording the visual evoked cortical potential (VECP). Methods: Two patients with MPS VI and 2 patients with MPS ...
