Articles with "patients pku" as a keyword



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Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations

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Published in 2020 at "Molecular Genetics and Metabolism Reports"

DOI: 10.1016/j.ymgmr.2020.100571

Abstract: Background Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by mutations in the gene encoding phenylalanine hydroxylase, an enzyme that converts phenylalanine to tyrosine. Untreated, PKU is characterized by a range of neuropsychological and… read more here.

Keywords: best practice; patients pku; practice recommendations; lost follow ... See more keywords
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Dietary intake and nutritional status of patients with phenylketonuria in Taiwan

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Published in 2020 at "Scientific Reports"

DOI: 10.1038/s41598-020-71361-8

Abstract: Phenylalanine hydroxylase (PAH) deficiency leads to phenylalanine accumulation and results in phenylketonuria (PKU). Phenylketonuria can contribute to severe inability such as mental impairment. Early diagnosis and dietary intervention can have beneficial effects on maintaining normal… read more here.

Keywords: dietary intake; patients pku; mass; status patients ... See more keywords
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Reply to Jakovac; Severity of COVID-19 infection in patients with phenylketonuria: is vitamin D status protective?

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Published in 2020 at "American Journal of Physiology - Endocrinology and Metabolism"

DOI: 10.1152/ajpendo.00195.2020

Abstract: TO THE EDITOR: In his outstanding article, Jakovac (7) highlighted the relevance of vitamin D in coronavirus disease (COVID-19) context. In fact, this seems an important metabolic explanation for the higher vulnerability for severe forms… read more here.

Keywords: status; patients pku; infection; vitamin status ... See more keywords
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Evaluation of Attention-deficit/Hyperactivity Disorder in Referred Patients to the PKU Clinic in Yazd, Iran

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Published in 2023 at "Iranian Journal of Child Neurology"

DOI: 10.22037/ijcn.v17i1.35870

Abstract: Objective The imbalance of phenylalanine (PA) to tyrosine level and decreased dopamine brain level in patients with phenylketonuria (PKU) may have a role in their susceptibility of them to attention-deficit/hyperactivity disorder (ADHD). This study aimed… read more here.

Keywords: patients pku; adhd; yazd iran; pku clinic ... See more keywords
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Protein Labelling Accuracy for UK Patients with PKU Following a Low Protein Diet

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Published in 2020 at "Nutrients"

DOI: 10.3390/nu12113440

Abstract: A phenylalanine (protein)-restricted diet is the primary treatment for phenylketonuria (PKU). Patients are dependent on food protein labelling to successfully manage their condition. We evaluated the accuracy of protein labelling on packaged manufactured foods from… read more here.

Keywords: protein; protein content; patients pku; accuracy ... See more keywords