A5089564343- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Glycogen Storage Diseases and Myoclonus
- Metabolism and Genetic Disorders
- Carbohydrate Chemistry and Synthesis
- Biomedical Research and Pathophysiology
- Child Nutrition and Feeding Issues
- Cellular transport and secretion
- Neonatal Health and Biochemistry
- Genomics and Rare Diseases
- Glycosylation and Glycoproteins Research
- Autoimmune and Inflammatory Disorders Research
- Folate and B Vitamins Research
- BRCA gene mutations in cancer
- Cystic Fibrosis Research Advances
- Neurogenetic and Muscular Disorders Research
- Erythrocyte Function and Pathophysiology
- Genomic variations and chromosomal abnormalities
- Research on Leishmaniasis Studies
- Sphingolipid Metabolism and Signaling
- Studies on Chitinases and Chitosanases
- Family and Disability Support Research
- Biochemical and Molecular Research
- Mitochondrial Function and Pathology
- Cytomegalovirus and herpesvirus research
National Institute on Population Medical Genetics
2016-2025
Universidade Federal do Rio Grande do Sul
2016-2025
Hospital de Clínicas de Porto Alegre
2016-2025
Santa Casa Hospital
2022-2025
Genomic (Brazil)
2022-2025
DASA (Brazil)
2023-2024
CS Diagnostics
2023
University of Rio Grande and Rio Grande Community College
2009-2023
Universidade Federal de Campina Grande
2021
Universidade Federal de Uberlândia
2021
Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, oral pharmacologic chaperone, stabilizes specific mutant forms α-galactosidase, increasing enzyme trafficking lysosomes.The initial assay that we used categorize 67 patients with disease for randomization 6 months double-blind migalastat or placebo (stage 1), followed by open-label from 12 2) plus additional year, had certain limitations. Before...
<h3>Background:</h3> Fabry disease is a rare X-linked lysosomal storage disorder characterised by severe multisystemic involvement that leads to major organ failure and premature death in affected men women. Over the past 7 years, Outcome Survey (FOS) has collected data on natural history of disease, long-term efficacy safety enzyme-replacement therapy. This paper provides an update first analysis FOS data. <h3>Design:</h3> Baseline clinical manifestations causes cohort 1453 patients (699...
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of restore activity.A pharmacogenetic assay was used identify amenable migalastat. Six hundred disease-causing were expressed HEK-293 (HEK) cells; increases activity measured good laboratory practice (GLP)-validated (GLP HEK/Migalastat Amenability Assay). The predictive value assessed based on pharmacodynamic...
Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers good care. There are no published national or international consensus guidelines for management of patients with ASMD. For these reasons, we have developed clinical that defines standard care ASMD patients.The information contained was obtained through systematic literature review experiences authors...
Objective. Mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (ASB). This leads to progressive disorder with multiple tissue and organ involvement. The rare heterogeneous in its clinical presentation progression. A potential treatment for this exists form enzyme-replacement therapy (ERT) recombinant human ASB (rhASB), phase 1/2 randomized, double-blind, 2-dose (0.2 1 mg/kg) study 6...
The objective of this study was to characterize the clinical features patients with Niemann-Pick disease type B and identify efficacy end points for future trials enzyme-replacement therapy.Fifty-nine who had B, were at least 6 years age, manifested 2 symptoms participated in multicenter, multinational, cross-sectional survey study. Medical histories; physical examinations; assessments cardiorespiratory function, laboratory data, liver spleen volumes; radiographic evaluation lungs bone age;...
Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabolism. It caused by deficiency in the lysosomal enzyme iduronate-2-sulfatase, and affected patients accumulates lysosomes various tissues organs contributes to pathophysiology syndrome. The Outcome Survey (HOS) was established better describe natural history this evaluate long-term effect replacement therapy.HOS an international, multicenter, observational survey that will collect data on...
Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder fewer manifestations mild abnormalities. Accurate assessments on frequency clinical characteristics have been scarce. The aim this study was collect such data.
In this study, we aimed to describe the natural history of mucopolysaccharidosis I.Data from 1,046 patients who enrolled in MPS I Registry as August 2013 were available for descriptive analysis. Only data untreated and prior treatment received considered. Age at symptom onset, diagnosis, initiation examined by geographic region phenotype (from most least severe: Hurler, Hurler-Scheie, Scheie). For each symptom, frequency age onset examined.Natural 987 patients. Most Europe (45.5%), followed...