Reference health
Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence
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References needing attention
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Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal
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Variability of Blood—Brain Ratios of Phenylalanine in Typical Patients with Phenylketonuria
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Remarkable differences: the course of life of young adults with galactosaemia and PKU
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Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis
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Blood–Brain Phenylalanine Relationships in Persons With Phenylketonuria
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Diffusion-weighted MR Imaging in Patients with Phenylketonuria: Relationship between Serum Phenylalanine Levels and ADC Values in Cerebral White Matter
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Reduced Cerebral Fluoro-
<scp>l</scp>
-Dopamine Uptake in Adult Patients Suffering from Phenylketonuria
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Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria
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The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (<sup>1</sup>H MRS) study
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Brain phenylalanine concentration in the management of adults with phenylketonuria
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Brain Imaging and Proton Magnetic Resonance Spectroscopy in Patients With Phenylketonuria
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Global and regional volume changes in the brains of patients with phenylketonuria
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Cerebral Energy Metabolism in Phenylketonuria: Findings by Quantitative In Vivo 31P MR Spectroscopy
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Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion
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Acetylcholinesterase Activity and Biogenic Amines in Phenylketonuria
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Normal-appearing White Matter in Patients with Phenylketonuria: Water Content, Myelin Water Fraction, and Metabolite Concentrations
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Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging
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Cerebral glucose metabolism in adults with early treated classic phenylketonuria
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Individual blood–brain barrier phenylalanine transport determines clinical outcome in phenylketonuria
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Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy
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Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors
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A randomized trial of long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria
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Iron and Protein Sufficiency and Red Cell Indices in Phenylketonuria
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Protein insufficiency and linear growth restriction in phenylketonuria
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Fish oil supplementation improves visual evoked potentials in children with phenylketonuria
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Effect of Fish Oil Supplementation on Fatty Acid Status, Coordination, and Fine Motor Skills in Children with Phenylketonuria
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Randomised controlled trial of essential fatty acid supplementation in phenylketonuria
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Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria
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Cognitive functions and the antioxidant system in phenylketonuric patients.
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The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria
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Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria
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Vitamin B<sub>12</sub> and vitamin B<sub>6</sub> supplementation is needed among adults with phenylketonuria (PKU)
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Dietary long‐chain polyunsaturated fatty acid supplementation in infants with phenylketonuria: a randomized controlled trial
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Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes
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Lipid Status and Long‐Chain Polyunsaturated Fatty Acid Concentrations in Adults and Adolescents with Phenylketonuria on Phenylalanine‐Restricted Diet
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Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment
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Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet
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Homocysteine and other vascular risk factors in patients with phenylketonuria on a diet
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Low total antioxidant status is implicated with high 8-hydroxy-2-deoxyguanosine serum concentrations in phenylketonuria
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Increased plasma adiponectin concentrations in poorly controlled patients with phenylketonuria normalize with a strict diet: evidence for catecholamine-mediated adiponectin regulation and a complex effect of phenylketonuria diet on atherogenesis risk factors
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The essential fatty acid status in phenylketonuria patients under treatment
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Carnitine Status in Early-Treated Children, Adolescents and Young Adults with Phenylketonuria on Low Phenylalanine Diets
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Intake and Blood Levels of Fatty Acids in Treated Patients With Phenylketonuria
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Normal Fatty Acid Concentrations in Young Children With Phenylketonuria
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The impact of the control of serum phenylalanine levels on osteopenia in patients with phenylketonuria
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Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?
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Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria
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Phalangeal Quantitative Ultrasound in Children with Phenylketonuria: A Pilot Study
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Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations
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Barriers to successful dietary control among pregnant women with phenylketonuria
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Maternal phenylketonuria: report from the United Kingdom Registry 1978-97
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Congenital Heart Disease in Maternal Phenylketonuria: Report from the Maternal PKU Collaborative Study
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Follow up of fetal outcome in cases of maternal phenylketonuria in Northern Ireland:
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Factors influencing outcomes in the offspring of mothers with phenylketonuria during pregnancy: the importance of variation in maternal blood phenylalanine
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Role of Nutrition in Pregnancy With Phenylketonuria and Birth Defects
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Nutrient intake and congenital heart defects in maternal phenylketonuria
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The International Study of Pregnancy Outcome in Women with Maternal Phenylketonuria: Report of a 12-year study
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Outcome at Age 4 Years in Offspring of Women With Maternal Phenylketonuria
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Relation of Prenatal Phenylalanine Exposure to Infant and Childhood Cognitive Outcomes: Results From the International Maternal PKU Collaborative Study
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Management of phenylketonuria in Europe: Survey results from 19 countries
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Dietary management practices in phenylketonuria across European centres
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Validity of the Agency for Healthcare Research and Quality Clinical Practice Guidelines
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How practical are recommendations for dietary control in phenylketonuria?
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The truth of treating patients with phenylketonuria after childhood: The need for a new guideline
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Living with phenylketonuria: Perspectives of patients and their families
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Blood phenylalanine estimation for the patient with phenylketonuria using a portable device
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Relative bioavailability of sapropterin from intact and dissolved sapropterin dihydrochloride tablets and the effects of food: A randomized, open-label, crossover study in healthy adults
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Long‐term follow‐up of patients with phenylketonuria receiving tetrahydrobiopterin treatment
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Optimizing the use of sapropterin (BH4) in the management of phenylketonuria
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Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria
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The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6<i>R</i>‐tetrahydrobiopterin): a phase II, multicentre, open‐label, screening study
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Recommendations for evaluation of responsiveness to tetrahydrobiopterin (BH4) in phenylketonuria and its use in treatment
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