相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism
Rianne E. van Outersterp et al.
COMMUNICATIONS BIOLOGY (2021)
Phenylketonuria
Francjan J. van Spronsen et al.
NATURE REVIEWS DISEASE PRIMERS (2021)
Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria
Stuart J. Moat et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2020)
Dried blood spot versus venous blood sampling for phenylalanine and tyrosine
Kimber van Vliet et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations
Jennifer Beazer et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2020)
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria
Sven F. Garbade et al.
GENETICS IN MEDICINE (2019)
Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
Fernando Andrade et al.
EUROPEAN JOURNAL OF PEDIATRICS (2019)
Of mice and men: Plasma phenylalanine reduction in PKU corrects neurotransmitter pathways in the brain
Geoffrey Y. Berguig et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
Fernando Andrade et al.
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS (2019)
Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients
Kimber van Vliet et al.
NUTRIENTS (2019)
Newly validated biomarkers of brain damage may shed light into the role of oxidative stress in the pathophysiology of neurocognitive impairment in dietary restricted phenylketonuria patients
Dolores Rausell et al.
PEDIATRIC RESEARCH (2019)
Metabolomics for improved treatment monitoring of phenylketonuria: urinary biomarkers for non-invasive assessment of dietary adherence and nutritional deficiencies
Jennifer Wild et al.
ANALYST (2019)
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
Karlien L. M. Coene et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
The complete European guidelines on phenylketonuria: diagnosis and treatment
A. M. J. van Wegberg et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Key European guidelines for the diagnosis and management of patients with phenylketonuria
Francjan J. van Spronsen et al.
LANCET DIABETES & ENDOCRINOLOGY (2017)
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach
Rani H. Singh et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria
Bridget M. Stroup et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2016)
Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring-Implications for clinical management of patients with hyperphenylalaninemia
Urh Groselj et al.
CLINICAL BIOCHEMISTRY (2015)
Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria
Frances Rohr et al.
MOLECULAR GENETICS AND METABOLISM (2015)
被撤回的出版物: World Medical Association Declaration of Helsinki Ethical Principles for Medical Research Involving Human Subjects (Retracted article. See vol. 135, pg. 2149, 2021)
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2013)
Is There a Standard Meal Plan for Phenylketonuria (PKU)?
Wendy Marcason
JOURNAL OF THE ACADEMY OF NUTRITION AND DIETETICS (2013)
Phenylketonuria: nutritional advances and challenges
Marcello Giovannini et al.
NUTRITION & METABOLISM (2012)
Food Products Made with Glycomacropeptide, a Low-Phenylalanine Whey Protein, Provide a New Alternative to Amino Acid-Based Medical Foods for Nutrition Management of Phenylketonuria
Sandra C. van Calcar et al.
JOURNAL OF THE ACADEMY OF NUTRITION AND DIETETICS (2012)
Medication Adherence: WHO Cares?
Marie T. Brown et al.
MAYO CLINIC PROCEEDINGS (2011)
Nutritional issues in treating phenylketonuria
Francois Feillet et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses
M. J. de Groot et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Executive function in early-treated phenylketonuria: Profile and underlying mechanisms
Shawn E. Christ et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods
Cria O. Gregory et al.
GENETICS IN MEDICINE (2007)
Problems in the management of urea cycle disorders
B Wilcken
MOLECULAR GENETICS AND METABOLISM (2004)
Tetrahydrobiopterin responsiveness:: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype
LR Desviat et al.
MOLECULAR GENETICS AND METABOLISM (2004)
分享论文
