Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria

The Indicator Amino Acid Oxidation Method with the Use of l-[1- 13 C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria

(2017) Abrar Turki et al.   JOURNAL OF NUTRITION

The relationship between dietary intake, growth and body composition in Phenylketonuria

(2017) Maureen Evans et al.   MOLECULAR GENETICS AND METABOLISM

Protein intake and physical activity are associated with body composition in individuals with phenylalanine hydroxylase deficiency

(2017) Rati Jani et al.   MOLECULAR GENETICS AND METABOLISM

Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

(2017) Rianne Jahja et al.   NEUROPSYCHOLOGY

Cognitive outcomes in early-treated adults with phenylketonuria (PKU): A comprehensive picture across domains.

(2017) Liana Palermo et al.   NEUROPSYCHOLOGY

The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages.

(2017) Cristina Romani et al.   NEUROPSYCHOLOGY

Key European guidelines for the diagnosis and management of patients with phenylketonuria

(2017) Francjan J van Spronsen et al.   Lancet Diabetes & Endocrinology

Therapeutic brain modulation with targeted large neutral amino acid supplements in the Pah-enu2 phenylketonuria mouse model

(2016) Danique van Vliet et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Protein substitutes for phenylketonuria in Europe: access and nutritional composition

(2016) M J Pena et al.   EUROPEAN JOURNAL OF CLINICAL NUTRITION

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

(2016) Rianne Jahja et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach

(2016) Rani H. Singh et al.   MOLECULAR GENETICS AND METABOLISM

Alternative therapies to address the unmet medical needs of patients with phenylketonuria

(2015) Nenad Blau et al.   EXPERT OPINION ON PHARMACOTHERAPY

Incretin Effect After Oral Amino Acid Ingestion in Humans

(2015) Ola Lindgren et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Food acceptance and neophobia in children with phenylketonuria: a prospective controlled study

(2015) S. Evans et al.   JOURNAL OF HUMAN NUTRITION AND DIETETICS

Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile

(2015) Maria João Pena et al.   Orphanet Journal of Rare Diseases

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

(2015) Annet M Bosch et al.   Orphanet Journal of Rare Diseases

Large Neutral Amino Acid Supplementation Exerts Its Effect through Three Synergistic Mechanisms: Proof of Principle in Phenylketonuria Mice

(2015) Danique van Vliet et al.   PLoS One

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

(2014)   GENETICS IN MEDICINE

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency

(2014) Rani H. Singh et al.   GENETICS IN MEDICINE

Phenylketonuria: Brain Phenylalanine Concentrations Relate Inversely to Cerebral Protein Synthesis

(2014) Martijn J de Groot et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria

(2014) Anna Hood et al.   MOLECULAR GENETICS AND METABOLISM

Phenylketonuria Scientific Review Conference: State of the science and future research needs

(2014) Kathryn M. Camp et al.   MOLECULAR GENETICS AND METABOLISM

Pharmacology, Physiology, and Mechanisms of Incretin Hormone Action

(2013) Jonathan E. Campbell et al.   Cell Metabolism

Effects of Intraduodenal Glutamine on Incretin Hormone and Insulin Release, the Glycemic Response to an Intraduodenal Glucose Infusion, and Antropyloroduodenal Motility in Health and Type 2 Diabetes

(2013) J. Chang et al.   DIABETES CARE

Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes

(2013) Maureen Cleary et al.   MOLECULAR GENETICS AND METABOLISM

Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations

(2013) Sarah C Grünert et al.   Nutrition Journal

Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis

(2013) Martijn J de Groot et al.   Orphanet Journal of Rare Diseases

Nutritional treatment for inborn errors of metabolism: Indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example

(2012) Kathryn M. Camp et al.   MOLECULAR GENETICS AND METABOLISM

Effects of Pre-Meal Drinks with Protein and Amino Acids on Glycemic and Metabolic Responses at a Subsequent Composite Meal

(2012) Ulrika J. Gunnerud et al.   PLoS One

Mammalian Target of Rapamycin Complex 1 Activation Is Required for the Stimulation of Human Skeletal Muscle Protein Synthesis by Essential Amino Acids

(2011) Jared M. Dickinson et al.   JOURNAL OF NUTRITION

The reality of dietary compliance in the management of phenylketonuria

(2010) Anita MacDonald et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU)

(2010) Barbara K. Burton et al.   MOLECULAR GENETICS AND METABOLISM

Breakfast with glycomacropeptide compared with amino acids suppresses plasma ghrelin levels in individuals with phenylketonuria

(2010) Erin L. MacLeod et al.   MOLECULAR GENETICS AND METABOLISM

Hydrolyzed dietary casein as compared with the intact protein reduces postprandial peripheral, but not whole-body, uptake of nitrogen in humans

(2009) Amélie Deglaire et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids

(2009) Sandra C van Calcar et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

(2009) Friedrich K. Trefz et al.   JOURNAL OF PEDIATRICS

Stability of blood phenylalanine levels and IQ in children with phenylketonuria

(2008) Vera Anastasoaie et al.   MOLECULAR GENETICS AND METABOLISM