A5021968370- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Glycogen Storage Diseases and Myoclonus
- Trypanosoma species research and implications
- Folate and B Vitamins Research
- Carbohydrate Chemistry and Synthesis
- Cellular transport and secretion
- Child Nutrition and Feeding Issues
- Calcium signaling and nucleotide metabolism
- Genomics and Rare Diseases
- Glycosylation and Glycoproteins Research
- Biochemical and Molecular Research
- Pineapple and bromelain studies
- Diet and metabolism studies
- Neonatal Health and Biochemistry
- Cystic Fibrosis Research Advances
- Mitochondrial Function and Pathology
- Studies on Chitinases and Chitosanases
- Amino Acid Enzymes and Metabolism
- Porphyrin Metabolism and Disorders
- Infant Nutrition and Health
- Autism Spectrum Disorder Research
- Public Health in Brazil
- Genetics and Neurodevelopmental Disorders
- Parkinson's Disease Mechanisms and Treatments
Universidade Federal do Rio Grande do Sul
2016-2025
Hospital de Clínicas de Porto Alegre
2016-2025
National Institute on Population Medical Genetics
2014-2025
Institute of Molecular Medicine
2024
Hillel Yaffe Medical Center
2024
Services Hospital
2004-2023
Medical Genetics Center
2023
BioMarin (United States)
2006-2022
Weatherford College
2022
Universidade Federal de São Paulo
2022
The coronavirus disease 2019 (COVID-19) pandemic is altering dynamics in academia, and people juggling remote work domestic demands – including childcare have felt impacts on their productivity. Female authors faced a decrease paper submission rates since the beginning of period. reasons for this decline women’s productivity need to be further investigated. Here, we analyzed influence gender, parenthood race academic during period based survey answered by 3,345 Brazilian academics from...
As daily life grinds to a halt worldwide in response the coronavirus disease 2019 (COVID-19) pandemic, professionals are adjusting new reality of remote working. For many researchers, release from teaching and administrative activities means more time for independent work. In contrast, parents young children whom school has been cancelled facing uniquely challenging responsibilities. Although academic fathers not immune impacts confinement, it is traditionally women who carry heaviest load...
A cross-sectional survey in individuals affected with the lysosomal storage disease Mucopolysaccharidosis VI (MPS VI) was conducted to establish demographics, urinary glycosaminoglycan (GAG) levels, and clinical progression of disease. The evaluated 121 bona fide MPS VI-affected over age 4 years from 15 countries across Americas, Europe, Australasia representing greater than 10% estimated world prevalence medical history, complete physical exam, GAG determination, assessment several measures...
Abstract Aim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). Methods: Details and their disease manifestations were obtained from a review medical records, interviews and/or families, physical examination patients. Results: Mean birth weight was 3360 g, median age at onset symptoms 18 months diagnosis 6 years. For whole sample (median age, 8.2 years; range, 2.8–53.0 years), neurological degeneration,...
Abstract Pulmonary function is impaired in untreated mucopolysaccharidosis type VI (MPS VI). was studied patients during long‐term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB; rh N ‐acetylgalactosamine 4‐sulfatase). tests prior to and for up 240 weeks of weekly infusions rhASB at 1 mg/kg were completed 56 Phase 1/2, 2, 3 Extension trials the Survey Study. Forced vital capacity (FVC), forced expiratory volume s (FEV1) and, a subset patients, maximum...
The detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation clinical management strategies, Brazil, there limited access these services, mainly due costs/availability genetic testing. Aiming at identification recurrent that could be included a low-cost mutation panel, used as first screening approach, we compiled testing reports 649 probands with pathogenic/likely pathogenic variants referred 28 public private health care centers distributed across 11 Brazilian...
Gaucher disease (GD) is a rare hereditary disorder caused by deficiency of the lysosomal enzyme β-glucocerebrosidase. Diagnosis challenging owing to wide variability in clinical manifestations and severity symptoms. Many patients may experience marked delays obtaining definitive diagnosis. The two surveys reported herein aimed explore patient journey diagnosis GD from perspectives expert physicians patients. Findings revealed that many experienced diagnostic misdiagnoses, with nearly 1 6...
To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in
Abstract The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry Health to reduce morbidity and mortality improve quality life people rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated Public System, 18 specialised centres so far at university hospitals (UH) in capitals Southern, Southeastern Northeastern regions. However, whether available human technological resources...
Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized by intralysosomal storage glycosaminoglycans. This study aimed to investigate the path followed Brazilian patients from birth diagnosis. An interview was conducted with patient's parents or guardians subsequent review medical records. One hundred thirteen MPS were included (MPS I: 18, II: 43, IIIA: 2, IIIB: 3, IIIC: 1, IVA: 15, IVB: VI: 29, VII: 1) 97 families. Median age at onset signs/symptoms 18 months...
O estudo analisa os gastos da judicialização de medicamentos para a mucopolissacaridose (MPS), uma doença rara, alto custo, fora política assistência farmacêutica e com benefício clínico. levantamento dados foi realizado nos arquivos 196 dossiês que determinou o Ministério Saúde fornecesse no período entre 2006 2010, registros administrativos contábeis do Saúde. A análise identifica sujeição governo brasileiro monopólios distribuição e, consequentemente, perda sua capacidade administrar...
The Gaucher Outcome Survey (GOS) is an international disease (GD) registry established in 2010 for patients with a confirmed GD diagnosis, regardless of type or treatment status, designed to evaluate the safety and long-term effectiveness velaglucerase alfa other GD-related treatments. As February 25, 2017, 1209 had enrolled, majority from Israel (44.3%) US (31.4%). Median age at GOS entry was 40.4 years, 44.1% were male, 13.3% undergone total splenectomy. Most 1 (91.5%) Ashkenazi Jewish...
Phenylketonuria (PKU) is an inborn error of metabolism associated with high blood levels phenylalanine (Phe). A Phe-restricted diet supplemented L-amino acids the main treatment strategy for this disease; if started early, most neurological abnormalities can be prevented. The healthy human gut contains trillions commensal bacteria, often referred to as microbiota. composition microbiota known modulated by environmental factors, including diet. In study, we compared 8 PKU patients on dietary...