Search Results - "de Groot, Martijn"
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Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis
Published in Orphanet journal of rare diseases (04-09-2013)“…In phenylketonuria (PKU), elevated blood phenylalanine (Phe) concentrations are considered to impair transport of large neutral amino acids (LNAAs) from blood…”
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Single amino acid supplementation in aminoacidopathies: a systematic review
Published in Orphanet journal of rare diseases (13-01-2014)“…Aminoacidopathies are a group of rare and diverse disorders, caused by the deficiency of an enzyme or transporter involved in amino acid metabolism. For most…”
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Phenylketonuria: Brain Phenylalanine Concentrations Relate Inversely to Cerebral Protein Synthesis
Published in Journal of cerebral blood flow and metabolism (01-02-2015)“…In phenylketonuria, elevated plasma phenylalanine concentrations may disturb blood-to-brain large neutral amino acid (LNAA) transport and cerebral protein…”
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Large neutral amino acids in the treatment of PKU: from theory to practice
Published in Journal of inherited metabolic disease (01-12-2010)“…Notwithstanding the success of the traditional dietary phenylalanine restriction treatment in phenylketonuria (PKU), the use of large neutral amino acid (LNAA)…”
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The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background
Published in Frontiers in behavioral neuroscience (20-12-2016)“…To unravel the role of gene mutations in the healthy and the diseased state, countless studies have tried to link genotype with phenotype. However, over the…”
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Key Components in eHealth Interventions Combining Self-Tracking and Persuasive eCoaching to Promote a Healthier Lifestyle: A Scoping Review
Published in Journal of medical Internet research (01-08-2017)“…The combination of self-tracking and persuasive eCoaching in automated interventions is a new and promising approach for healthy lifestyle management. The aim…”
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De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder
Published in American journal of human genetics (08-08-2024)“…Histone deacetylase 3 (HDAC3) is a crucial epigenetic modulator essential for various developmental and physiological functions. Although its dysfunction is…”
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A Conceptual Framework for Personal Science
Published in Frontiers in computer science (Lausanne) (30-06-2020)“…This paper introduces a conceptual framework to guide research and education into the practice of personal science, which we define as using empirical methods…”
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Single Subject (N-of-1) Research Design, Data Processing, and Personal Science
Published in Methods of information in medicine (2017)Get more information
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Citizen Science for Health: An International Survey on Its Characteristics and Enabling Factors
Published in Citizen science : theory and practice (05-09-2024)“…Even though citizen and patient engagement in health research has a long tradition, citizen science in health has only recently gained attention and…”
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Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients
Published in Molecular genetics and metabolism (01-04-2012)“…The etiology of reduced bone mineral density (BMD) in phenylketonuria (PKU) is unknown. Reduced BMD may be inherent to PKU and/or secondary to its dietary…”
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Evaluation of DVH-based treatment plan verification in addition to gamma passing rates for head and neck IMRT
Published in Radiotherapy and oncology (01-09-2014)“…Abstract Background and purpose Treatment plan verification of intensity modulated radiotherapy (IMRT) is generally performed with the gamma index (GI)…”
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Causes of limited survival of microencapsulated pancreatic islet grafts
Published in Journal of Surgical Research (01-09-2004)“…Successful transplantation of pancreatic tissue has been demonstrated to be an efficacious method of restoring glycemic control in type 1 diabetic patients. To…”
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Barriers to and Facilitators of Using a One Button Tracker and Web-Based Data Analytics Tool for Personal Science: Exploratory Study
Published in JMIR formative research (01-03-2022)“…Individuals' self-tracking of subjectively experienced phenomena related to health can be challenging, as current options for instrumentation often involve too…”
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BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations
Published in Molecular genetics and metabolism (01-01-2015)“…In phenylketonuria (PKU), cerebral neurotransmitter deficiencies have been suggested to contribute to brain dysfunction. Present treatment aims to reduce blood…”
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Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I
Published in Journal of inherited metabolic disease (01-12-2010)“…Acute liver failure may be caused by a variety of disorders including inborn errors of metabolism. In those cases, rapid metabolic investigations and adequate…”
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Reliability and Validity of Ten Consumer Activity Trackers Depend on Walking Speed
Published in Medicine and science in sports and exercise (01-04-2017)“…PURPOSETo examine the test–retest reliability and validity of ten activity trackers for step counting at three different walking speeds. METHODSThirty-one…”
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Deterioration of Endothelial and Smooth Muscle Cell Function in DCD Kidneys After Static Cold Storage in IGL-1 or UW
Published in The Journal of surgical research (01-04-2009)“…Background Kidneys obtained from donors after cardiac death are damaged by the combination of warm and cold ischemia. Although the parenchymal damage of these…”
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Determinants for Sustained Use of an Activity Tracker: Observational Study
Published in JMIR mHealth and uHealth (30-10-2017)“…A lack of physical activity is considered to cause 6% of deaths globally. Feedback from wearables such as activity trackers has the potential to encourage…”
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Do activity monitors increase physical activity in adults with overweight or obesity? A systematic review and meta‐analysis
Published in Obesity (Silver Spring, Md.) (01-10-2016)“…Objective To systematically assess contemporary knowledge regarding behavioral physical activity interventions including an activity monitor (BPAI+) in adults…”
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