A5016887555- Educational Strategies and Epistemologies
- Folate and B Vitamins Research
- Metabolism and Genetic Disorders
- Reading and Literacy Development
- Muscle metabolism and nutrition
- Science Education and Pedagogy
- Education and Critical Thinking Development
- Viral Infections and Vectors
- Mosquito-borne diseases and control
- Nutrition and Health in Aging
- Cold Atom Physics and Bose-Einstein Condensates
- Mathematical Biology Tumor Growth
- Science, Technology, and Education in Latin America
- Fractional Differential Equations Solutions
- Child and Animal Learning Development
- Chemical Reactions and Isotopes
- RNA regulation and disease
- Vanadium and Halogenation Chemistry
- Polyamine Metabolism and Applications
- Advanced Text Analysis Techniques
- Youth, Drugs, and Violence
- Skin and Cellular Biology Research
- Language, Metaphor, and Cognition
- Higher Education Teaching and Evaluation
- E-Learning and Knowledge Management
Universidade da Madeira
2005-2025
University of Coimbra
1990-2013
British Columbia Children's Hospital
2006
Universidad de Alcalá
2000
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) speech/language delay and behavioral problems as the most affected domains was present in 44 participants, additional epilepsy 35 movement disorder 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate protein/arginine restricted diets. The median age at treatment...
Guanidinoactetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine synthesis. The authors analyzed clinical, biochemical, and molecular findings in 27 patients.The collected data from questionnaires literature reports. A score including degree intellectual disability, epileptic seizures, movement was developed used to classify clinical phenotype as severe, moderate, or mild. Score biochemical were assessed before during treatment with oral substitution alone...
Abstract Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error metabolism. The majority previous reports dealt with pediatric patients, in contrast to present study. A total 180 institutionalized patients severe mental handicap were investigated for urine plasma uric acid creatinine. Patients an increased urinary acid/creatinine ratio and/or decreased creatinine subjected analysis (GAA)....
This article relays results of a study focused on questions invoked to correct declarative knowledge deficits while readers process science texts explaining natural phenomena. Firstly, the authors finding out what kind are asked by students who read these and, secondly how task demand influences quantity and quality formulated questions. Two hundred eighty nine Portuguese from 8th, 10th, 12th grade participated in study. The were instructed ask two short paragraphs that explained Three...
Background: Imbalance of homocysteine (Hcy) metabolism links with several pathologies; nevertheless, it is poorly characterized in pediatric populations. This study investigated the impact age on plasma concentrations Hcy and relevant biomarkers along correspondent genotype interactions. Methods: A healthy cohort aged 9 (n = 195) 17 128) years old (yo) was studied. Immunoassays GC-MS-SIM-mode quantified levels biomarkers. PCR-RFLP or quantitative-PCR assays assessed common variations related...
The aim of this study is to analyse the effect tasks on detection explanation obstacles when secondary school students read scientific texts. Students were instructed short passages under different task conditions, and ask questions if necessary. Obstacle was operationalised in terms type asked by students. experiment examined influence goals associated with reading understand a text vs. perform procedure described (a science experiment). Significantly, more found understanding condition...
Introduction: Metabolism of sulfur amino acids requires an optimal interplay between nutritional demand, enzymes, transporters, and adequate dietary intake B vitamins. Insufficient excess are detrimental, concentrations depend on health status. However, plasma aminothiol concentrations, previously reported in healthy subjects using highly sensitive methods, vary considerably, age- gender differences were observed. Therefore, defining gender-specific ranges for each population is crucial to...
Dengue is among the most important mosquito-borne viral diseases worldwide. Although its acute manifestations are well known, little known about long-term impact of dengue on population's health status. Madeira Island experienced a single outbreak autochthonous from September 2012 to March 2013. To extend our knowledge clinical this naive population, we applied an online questionnaire 168 adults diagnosed with at time characterize retrospectively their symptoms during infection and identify...
This article relays results of a study focused on questions invoked to correct declarative knowledge deficits while readers process science texts explaining natural phenomena. Firstly, the authors finding out what kind are asked by students who read these and, secondly how task demand influences quantity and quality formulated questions. Two hundred eighty nine Portuguese from 8th, 10th, 12th grade participated in study. The were instructed ask two short paragraphs that explained Three...
The Moszkowski model with cranking is studied at a finite temperature in the mean field approximation and terms of thermal boson expansion.Received 21 July 1992DOI:https://doi.org/10.1103/PhysRevC.46.2098©1992 American Physical Society