Search Results - "Mirian, C."
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Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
Published in Orphanet journal of rare diseases (03-07-2021)“…No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. In animal and cell models ketones decrease…”
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Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation
Published in Journal of inherited metabolic disease (01-11-2012)“…The m.3243A > G mutation has become known as the MELAS mutation. However, many other clinical phenotypes associated with this mutation have been described,…”
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3
Anthropogenic deposition increases nitrogen-phosphorus imbalances in tree vegetation, litter and soil of Atlantic Forest remnants
Published in Plant and soil (01-04-2021)“…Aims Increased N deposition may cause nutritional imbalances in tropical ecosystems, by shifting N:P stoichiometry (as they are typically P-limited) and NH 4…”
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4
Computer-aided autism diagnosis based on visual attention models using eye tracking
Published in Scientific reports (12-05-2021)“…An advantage of using eye tracking for diagnosis is that it is non-invasive and can be performed in individuals with different functional levels and ages…”
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Pah levels in the soil-litter-vegetation-atmosphere system of Atlantic Forest remnants in Southeast Brazil
Published in Environmental monitoring and assessment (01-04-2022)“…Although the Brazilian Atlantic Forest is a hotspot for biodiversity conservation, it is one of the most fragmented biomes in Brazil and also affected by air…”
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SARS-CoV-2 Proteins Bind to Hemoglobin and Its Metabolites
Published in International journal of molecular sciences (21-08-2021)“…(1) Background: coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has been linked to hematological…”
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Foliar accumulation of polycyclic aromatic hydrocarbons in native tree species from the Atlantic Forest (SE-Brazil)
Published in The Science of the total environment (15-02-2016)“…Polycyclic aromatic hydrocarbons (PAHs) are toxic to living organisms. They can accumulate on foliar surfaces due to their affinity with apolar organic…”
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Correction to: Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety
Published in Orphanet journal of rare diseases (27-09-2021)Get full text
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Cognitive functioning and mental health in children with a primary mitochondrial disease
Published in Orphanet journal of rare diseases (01-10-2022)“…Studies regarding cognitive and mental health functioning in children with mitochondrial disease (MD) are scarce, while both are important issues given their…”
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Individual dietary intervention in adult patients with mitochondrial disease due to the m.3243 A>G mutation
Published in Nutrition (Burbank, Los Angeles County, Calif.) (01-01-2020)“…The aim of this study was to evaluate the effect of an individually tailored dietary intervention on personalized goals, body composition (BC), functioning,…”
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Effect of Early Time-Restricted Eating on Metabolic Markers and Body Composition in Individuals with Overweight or Obesity
Published in Nutrients (09-07-2024)“…This study aimed to evaluate the effect of early time-restricted eating (eTRE) on metabolic markers and body composition in individuals with overweight or…”
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The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders
Published in Clinical pharmacology and therapeutics (01-01-2019)“…KH176 is a potent intracellular reduction–oxidation‐modulating compound developed to treat mitochondrial disease. We studied tolerability, safety,…”
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A conceptual disease model for quality of life in mitochondrial disease
Published in Orphanet journal of rare diseases (15-07-2022)“…Previous studies in patients with a mitochondrial disease (MD) highlight the high prevalence of cognitive impairments, fatigue, depression, and a lower quality…”
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14
Nickel and zinc absorption and growth of Atlantic Forest trees cultivated in polluted soil
Published in Plant and soil (01-02-2022)“…Background and aims The Brazilian Atlantic Forest has been affected by the deposition of Ni and Zn, among other heavy metals adsorbed on atmospheric particles,…”
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15
Standard dilution analysis of beverages by microwave-induced plasma optical emission spectrometry
Published in Analytica chimica acta (25-02-2016)“…In this work, standard dilution analysis (SDA) is combined with microwave-induced plasma optical emission spectrometry (MIP OES) to determine seven elements in…”
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Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
Published in Journal of inherited metabolic disease (01-05-2018)“…The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn…”
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Effects of resistant starch on glycemic response, postprandial lipemia and appetite in subjects with type 2 diabetes
Published in European journal of nutrition (01-08-2023)“…Purpose Resistant starch (RS) content has exhibited beneficial effects on glycemic control; however, few studies have investigated the effects of this…”
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High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial
Published in Journal of inherited metabolic disease (01-02-2011)“…The main debate in the treatment of Phenylketonuria (PKU) is whether adult patients need the strict phenylalanine (Phe)-restricted diet. Physicians and…”
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Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities
Published in Orphanet journal of rare diseases (07-02-2020)“…Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available…”
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Fear of disease progression in carriers of the m.3243A > G mutation
Published in Orphanet journal of rare diseases (13-11-2018)“…Being diagnosed with mitochondrial disease due to the m.3243A > G mutation is frequently preceded by a long diagnostic process. The disease itself is…”
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