The complete European guidelines on phenylketonuria: diagnosis and treatment
AMJ Van Wegberg, A MacDonald, K Ahring… - Orphanet journal of rare …, 2017 - Springer
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism
caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine …
caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine …
Key European guidelines for the diagnosis and management of patients with phenylketonuria
FJ Van Spronsen, AMJ van Wegberg… - The lancet Diabetes & …, 2017 - thelancet.com
We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the
guidelines, we did a literature search, critical appraisal, and evidence grading according to …
guidelines, we did a literature search, critical appraisal, and evidence grading according to …
[HTML][HTML] Phenylketonuria: a review of current and future treatments
N Al Hafid, J Christodoulou - Translational pediatrics, 2015 - ncbi.nlm.nih.gov
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism caused by a
deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). If left untreated, the …
deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). If left untreated, the …
[HTML][HTML] Pegvaliase for the treatment of phenylketonuria: results of a long-term phase 3 clinical trial program (PRISM)
J Thomas, H Levy, S Amato, J Vockley, R Zori… - Molecular genetics and …, 2018 - Elsevier
Background Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH)
deficiency that results in phenylalanine (Phe) accumulation. Pegvaliase, PEGylated …
deficiency that results in phenylalanine (Phe) accumulation. Pegvaliase, PEGylated …
Psychiatric and cognitive aspects of phenylketonuria: the limitations of diet and promise of new treatments
Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to
mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in …
mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in …
Inborn errors of metabolism associated with autism spectrum disorders: approaches to intervention
Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated
with inborn errors of metabolism, such as disorders of amino acid metabolism and transport …
with inborn errors of metabolism, such as disorders of amino acid metabolism and transport …
[HTML][HTML] Living with phenylketonuria in adulthood: the PKU ATTITUDE study
C Cazzorla, G Bensi, G Biasucci, V Leuzzi… - Molecular genetics and …, 2018 - Elsevier
Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to
low-phenylalanine diet progressively decreases after adolescence. We designed a survey to …
low-phenylalanine diet progressively decreases after adolescence. We designed a survey to …
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
AM Bosch, A Burlina, A Cunningham, E Bettiol… - Orphanet journal of rare …, 2015 - Springer
Background The strict and demanding dietary treatment and mild cognitive abnormalities
seen in PKU treated from a young age can be expected to affect the health-related quality of …
seen in PKU treated from a young age can be expected to affect the health-related quality of …
Systematic review and meta-analysis of neuropsychiatric symptoms and executive functioning in adults with phenylketonuria
This systematic review and meta-analysis (MA) investigates the impact of elevated blood
phenylalanine (Phe) on neuropsychiatric symptoms in adults with phenylketonuria (PKU) …
phenylalanine (Phe) on neuropsychiatric symptoms in adults with phenylketonuria (PKU) …