Search Results - "Mirian, C."

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  1. 1

    Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety by Zweers, Heidi, van Wegberg, Annemiek M J, Janssen, Mirian C H, Wortmann, Saskia B

    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 by de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.

    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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    Anthropogenic deposition increases nitrogen-phosphorus imbalances in tree vegetation, litter and soil of Atlantic Forest remnants by Boccuzzi, Giovanna, Nakazato, Ricardo K., Pereira, Milton A. G., Rinaldi, Mirian C. S., Lopes, Marcia I. M. S., Domingos, Marisa

    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. 4

    Computer-aided autism diagnosis based on visual attention models using eye tracking by Oliveira, Jessica S., Franco, Felipe O., Revers, Mirian C., Silva, Andréia F., Portolese, Joana, Brentani, Helena, Machado-Lima, Ariane, Nunes, Fátima L. S.

    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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  5. 5

    Pah levels in the soil-litter-vegetation-atmosphere system of Atlantic Forest remnants in Southeast Brazil by Santos, Douglas Dourado, Santos, Omar Santiago Lakis, Domingos, Marisa, Rinaldi, Mirian C. S.

    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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    Foliar accumulation of polycyclic aromatic hydrocarbons in native tree species from the Atlantic Forest (SE-Brazil) by Dias, Ana Paula L., Rinaldi, Mirian C.S., Domingos, Marisa

    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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    Cognitive functioning and mental health in children with a primary mitochondrial disease by van de Loo, Kim F. E, Custers, José A. E, de Boer, Lonneke, van Lieshout, Marloes, de Vries, Maaike C, Janssen, Mirian C. H, Verhaak, Christianne M

    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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  10. 10

    Individual dietary intervention in adult patients with mitochondrial disease due to the m.3243 A>G mutation by Zweers, Heidi, Smit, Debbie, Leij, Susanne, Wanten, Geert, Janssen, Mirian C.H.

    “…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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    The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders by Janssen, Mirian C.H., Koene, Saskia, Laat, Paul, Hemelaar, Pleun, Pickkers, Peter, Spaans, Edwin, Beukema, Rypko, Beyrath, Julien, Groothuis, Jan, Verhaak, Chris, Smeitink, Jan

    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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  13. 13

    A conceptual disease model for quality of life in mitochondrial disease by van de Loo, Kim F E, van Zeijl, Nander T, Custers, José A E, Janssen, Mirian C H, Verhaak, Christianne M

    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. 14

    Nickel and zinc absorption and growth of Atlantic Forest trees cultivated in polluted soil by Brandão, Solange E., Barbosa, Geane M., Siqueira, Matheus C., de O. A. Campos, Rafaela, Dalsin, Ana C. F., Rinaldi, Mirian C. S., Domingos, Marisa

    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. 15

    Standard dilution analysis of beverages by microwave-induced plasma optical emission spectrometry by Goncalves, Daniel A., McSweeney, Tina, Santos, Mirian C., Jones, Bradley T., Donati, George L.

    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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    Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities by Welsink-Karssies, Mendy M, Oostrom, Kim J, Hermans, Merel E, Hollak, Carla E M, Janssen, Mirian C H, Langendonk, Janneke G, Oussoren, Esmee, Rubio Gozalbo, M Estela, de Vries, Maaike, Geurtsen, Gert J, Bosch, Annet M

    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 by Custers, José A E, de Laat, Paul, Koene, Saskia, Smeitink, Jan, Janssen, Mirian C H, Verhaak, Christianne

    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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