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Article
Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice
Hunter syndrome or mucopolysaccharidosis type II (MPS II) is an X-linked recessive disease caused by the deficiency of iduronate 2-sulfatase (IDS), leading to storage of undegraded heparan and dermatan sulfate...
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Article
Open AccessClinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa
This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18...
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Article
Glycosaminoglycans can be associated with oxidative damage in mucopolysaccharidosis II patients submitted to enzyme replacement therapy
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Article
Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil
Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Fede...
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Article
Open AccessEnzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these ...
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Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)
Hunter syndrome, or Mucopolysaccharidosis type II (MPS II), is a rare X-linked recessive disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The phenotypic spectrum varies from...
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Article
1029 Polymorphic Variants of Ugt1A1 in Neonatal Jaundice in Southern Brazil
Background and aims: Neonatal jaundice seems a benign condition but babies must be monitored in order to identify those who are at higher risk of encephalopathy. Abnormalities in hepatic conjugation of bilirub...
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Article
1039 Inborn Errors of Metabolism (IEM) in Infants Admitted to Intensive Care Units: A Study About Different Investigational Strategies
Background and aims: IEM are genetic diseases the majority with recessive inheritance and varied clinical presentation that turn diagnosis into a challenge. Especially in develo** countries, knowledge of IEM...
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Article
Clinical and biochemical studies in mucopolysaccharidosis type II carriers
The aim of the study was to characterize clinically and biochemically mucopolysaccharidosis type II (MPS II) heterozygotes. Fifty-two women at risk to be a carrier, with a mean age of 34.1 years (range 16–57 y...
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Article
Galactosaemia in a Brazilian population: High incidence and cost–benefit analysis
To study the incidence of galactosaemia in the state of São Paulo and the benefit/cost (B/C) ratio of the introduction of neonatal screening for galactosaemia, comparing it with a selective approach.
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Article
Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)
Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a progressive, multisystemic disease caused by a deficiency of iduronate-2-sulfatase. Patients with the severe form of the disease have cognitive im...
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Article
A Brazilian galactosialidosis patient given renal transplantation: A case report
We report a Brazilian girl who was diagnosed as having galactosialidosis (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for...
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Article
Investigation of oxidative stress parameters in treated phenylketonuric patients
Phenylketonuria (PKU) is the most frequent disturbance of amino acid metabolism being caused by severe deficiency of phenylalanine hydroxylase activity. Untreated PKU patients present severe mental retardation...
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Article
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease
Aim To report the effect of enzyme replacement therapy (ERT) in sympathetic skin responses (SSR) of patients with Fabry disease. Patients and methods Seven male patients were included in ...
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Article
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke
We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode.
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Article
Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model
Mucopolysaccharidosis I (MPS I) is a lysosomal disorder characterized by a deficiency of the enzyme α-L-iduronidase (IDUA), which is responsible for the degradation of glycosaminoglycans (GAGs). This deficiency l...
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Article
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients
Mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome, MPS VI) is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-4-sulphatase (ARSB),which leads to the lysosomal accumulation and e...
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Article
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses
Glycosaminoglycans are accumulated in both mucopolysaccharidoses (MPS) and mucolipidoses (ML). MPS I, II, III and VII and ML II and ML III patients cannot properly degrade heparan sulphate (HS). In spite of th...
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Article
169 Update on Enzyme Replacement Therapy (ERT) with Recombinant Human Arylsulfatase B (RHASB) for MPS VI (Maroteaux-Lamy)
MPS VI is a rare, life-threatening lysosomal storage disease with no effective treatment. ERT with rhASB has shown promising results in 2 clinical studies. The objective of this Phase 3 study was to confirm ef...
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Article
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses
The mucopolysaccharidoses (MPS) is characterized by accumulation of glycosaminoglycans (GAGs), and mucolipidosis (ML) by accumulation of GAGs and sphingolipids. Each type of MPS accumulates specific GAGs. The ...
