Scientific studies on Phenylketonuria

Last updated: September 25, 2013
Impact of metabolic control on bone quality in phenylketonuria and mild hyperphenylalaninemia.
Journal of pediatric gastroenterology and nutrition

Mental and motor development and psychosocial adjustment of Chinese children with phenylketonuria.
Journal of paediatrics and child health

ADHERENCE TO DIET AND QUALITY OF LIFE IN PATIENTS WITH PHENYLKETONURIA.
Acta paediatrica (Oslo, Norway : 1992)

Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment.
Journal of inherited metabolic disease

[Classic maternal phenylketonuria and sonographic evidence of fetal trisomy 21: first description].
Zeitschrift für Geburtshilfe und Neonatologie

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.
The Journal of pediatrics

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life.
Journal of inherited metabolic disease

Dietary treatment of phenylketonuria: the effect of phenylalanine on reaction time.
Journal of inherited metabolic disease

Rapid screening of phenylketonuria using a CD microfluidic device.
Journal of chromatography. A

Transition of young adults with phenylketonuria from pediatric to adult care.
Journal of inherited metabolic disease

Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria.
Clinical genetics

[Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Nutritional issues in treating phenylketonuria.
Journal of inherited metabolic disease

Event-related potential correlates of selective processing in early- and continuously-treated children with phenylketonuria: effects of concurrent phenylalanine level and dietary control.
Molecular genetics and metabolism

Phenylketonuria in Children and Mothers: Genes, Environments, Behavior.
Current directions in psychological science : a journal of the American Psychological Society

Maternal Phenylketonuria (MPKU).
Canadian family physician Médecin de famille canadien

The contributions of Louis I Woolf to the treatment, early diagnosis and understanding of phenylketonuria.
Journal of medical screening

Variations in genotype-phenotype correlations in phenylketonuria patients.
Genetics and molecular research : GMR

Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test.
Clinica chimica acta; international journal of clinical chemistry

Psychiatric symptoms and disorders in phenylketonuria.
Molecular genetics and metabolism

Adult issues in phenylketonuria.
The Netherlands journal of medicine

Executive function in early-treated phenylketonuria: profile and underlying mechanisms.
Molecular genetics and metabolism

The role of intelligence in phenylketonuria: a review of research and management.
Molecular genetics and metabolism

Animal models of brain dysfunction in phenylketonuria.
Molecular genetics and metabolism

Dietary interventions for phenylketonuria.
Cochrane database of systematic reviews (Online)

Carrier detection of phenylketonuria in Iranian families by variable number tandem-repeat polymorphism analysis.
Eastern Mediterranean health journal = La revue de santé de la Méditerranée orientale = al-Majallah al-?i??iyah li-sharq al-mutawassi?

ADHD, learning, and academic performance in phenylketonuria.
Molecular genetics and metabolism

Disruption of prefrontal function and connectivity in individuals with phenylketonuria.
Molecular genetics and metabolism

White matter pathology in phenylketonuria.
Molecular genetics and metabolism

Carcinogenic effects in a phenylketonuria mouse model.
PloS one

Future treatment strategies in phenylketonuria.
Molecular genetics and metabolism

Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses.
Molecular genetics and metabolism

Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin.
Molecular genetics and metabolism

Detecting 3D Corpus Callosum abnormalities in phenylketonuria.
International journal of computational biology and drug design

The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria.
Molecular genetics and metabolism

ACOG Committee Opinion No. 449: Maternal phenylketonuria.
Obstetrics and gynecology

PKU-what is daily practice in various centres in Europe? Data from a questionnaire by the scientific advisory committee of the European Society of Phenylketonuria and Allied Disorders.
Journal of inherited metabolic disease

Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle.
Journal of inherited metabolic disease

A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria.
Journal of inherited metabolic disease

[Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics