Published in J Inherit Metab Dis on April 07, 2010
Phenylalanine assembly into toxic fibrils suggests amyloid etiology in phenylketonuria. Nat Chem Biol (2012) 1.05
Tetrahydrobiopterin (BH4) in PKU: effect on dietary treatment, metabolic control, and quality of life. J Inherit Metab Dis (2012) 1.04
Up to date knowledge on different treatment strategies for phenylketonuria. Mol Genet Metab (2011) 1.02
Newborn screening 50 years later: access issues faced by adults with PKU. Genet Med (2013) 1.02
Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires. Orphanet J Rare Dis (2015) 0.90
Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries. Orphanet J Rare Dis (2015) 0.88
Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria. BMC Public Health (2014) 0.86
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study. J Inherit Metab Dis (2016) 0.85
Family social status and dietary adherence of patients with phenylketonuria. Iran J Pediatr (2011) 0.85
Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4)). JIMD Rep (2012) 0.84
Phenylketonuria (PKU): A problem solved? Mol Genet Metab Rep (2015) 0.80
"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial. Orphanet J Rare Dis (2011) 0.80
Dietary habits and metabolic control in adolescents and young adults with phenylketonuria: self-imposed protein restriction may be harmful. JIMD Rep (2013) 0.78
Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source. Eur J Clin Nutr (2017) 0.77
Phone-based motivational interviewing to increase self-efficacy in individuals with phenylketonuria. Mol Genet Metab Rep (2016) 0.77
Phenylketonuria: translating research into novel therapies. Transl Pediatr (2014) 0.75
Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation. Mol Genet Metab Rep (2017) 0.75
Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer. JIMD Rep (2012) 0.75
The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK. Mol Genet Metab Rep (2016) 0.75
Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis. JIMD Rep (2016) 0.75
Unrestricted fruits and vegetables in the PKU diet: a 1-year follow-up. Eur J Clin Nutr (2014) 0.75
Sapropterin Dihydrochloride Mixed With Common Foods and Beverages. Top Clin Nutr (2014) 0.75
Interventions for enhancing medication adherence. Cochrane Database Syst Rev (2008) 11.07
A systematic review of the associations between dose regimens and medication compliance. Clin Ther (2001) 9.23
Patient adherence to treatment: three decades of research. A comprehensive review. J Clin Pharm Ther (2001) 8.56
Medication compliance and persistence: terminology and definitions. Value Health (2008) 7.58
How practical are recommendations for dietary control in phenylketonuria? Lancet (2002) 2.82
Relationships among subjective and objective measures of adherence to oral antipsychotic medications. Psychiatr Serv (2007) 1.99
Medication adherence: a review of the literature and implications for clinical practice. J Psychiatr Pract (2009) 1.87
"Why do they do that?" The compliance conundrum. Pediatr Nephrol (2005) 1.66
Family conditions and dietary control in phenylketonuria. J Inherit Metab Dis (2007) 1.56
Persistence with drug therapy: a practical approach using administrative claims data. Manag Care (2001) 1.32
Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet. Arch Dis Child (1996) 1.19
Does a single plasma phenylalanine predict quality of control in phenylketonuria? Arch Dis Child (1998) 1.14
Living with phenylketonuria: perspectives of patients and their families. J Inherit Metab Dis (2005) 1.09
Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing. Pediatrics (1993) 1.06
The truth of treating patients with phenylketonuria after childhood: the need for a new guideline. J Inherit Metab Dis (2008) 1.03
What do we mean by adherence to treatment and advice for living with diabetes? A review of the literature on definitions and measurements. Diabet Med (2006) 0.97
Behavioural factors related to metabolic control in patients with phenylketonuria. J Inherit Metab Dis (2005) 0.93
Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria. Eur J Pediatr (1996) 0.93
Phenylketonuria: plasma phenylalanine responses to different distributions of the daily phenylalanine allowance over the day. Pediatrics (1996) 0.90
Adherence to oral therapy for type 2 diabetes: opportunities for enhancing glycemic control. J Am Acad Nurse Pract (2004) 0.88
Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration background. Wien Klin Wochenschr (2005) 0.88
Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria? J Hum Nutr Diet (2008) 0.86
Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria? J Inherit Metab Dis (2008) 0.85
Knowledge, compliance and serum phenylalanine concentrations in adolescents and adults with phenylketonuria and the effect of a patient-focused educational resource. J Hum Nutr Diet (2008) 0.82
Protein substitute dosage in PKU: how much do young patients need? Arch Dis Child (2006) 0.82
Influence of knowledge of the disease on metabolic control in phenylketonuria. Eur J Pediatr (2003) 0.82
'Ready to drink' protein substitute is easier is for people with phenylketonuria. J Inherit Metab Dis (2006) 0.80
Non-compliance and professional power. J Adv Nurs (1998) 0.79
A new amino acid mixture permits new approaches to the treatment of phenylketonuria. Acta Paediatr Suppl (1994) 0.79
Automated messaging to improve compliance with diabetes test monitoring. Am J Manag Care (2009) 0.78
Intellectual and school performance in adolescents with phenylketonuria according to their dietary compliance. The Czech-Slovak Collaborative Study. Eur J Pediatr (1996) 0.77
The impact of visual media to encourage low protein cooking in inherited metabolic disorders. J Hum Nutr Diet (2009) 0.76
Home delivery of dietary products in inherited metabolic disorders reduces prescription and dispensing errors. J Hum Nutr Diet (2006) 0.75
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res (2006) 2.31
Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis (2011) 2.14
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. J Inherit Metab Dis (2013) 1.45
In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases. J Inherit Metab Dis (2014) 1.44
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res (2007) 1.44
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inherit Metab Dis (2012) 1.41
Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol (2010) 1.31
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res (2007) 1.18
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany. Orphanet J Rare Dis (2011) 1.14
Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol (2003) 1.12
Large neutral amino acids in the treatment of PKU: from theory to practice. J Inherit Metab Dis (2010) 1.02
Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients. Mol Genet Metab (2012) 0.99
Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis. Neurosci Biobehav Rev (2008) 0.97
Dietary management practices in phenylketonuria across European centres. Clin Nutr (2009) 0.94
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients. J Inherit Metab Dis (2014) 0.91
Serum vitamin B12 concentrations within reference values do not exclude functional vitamin B12 deficiency in PKU patients of various ages. Mol Genet Metab (2010) 0.90
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis (2013) 0.90
Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration background. Wien Klin Wochenschr (2005) 0.88
Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life. J Inherit Metab Dis (2013) 0.86
Adjusting diet with sapropterin in phenylketonuria: what factors should be considered? Br J Nutr (2011) 0.86
Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation. J Inherit Metab Dis (2013) 0.84
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience. Mol Genet Metab (2012) 0.84
Optimising growth in phenylketonuria: current state of the clinical evidence base. Clin Nutr (2011) 0.84
Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values. J Inherit Metab Dis (2010) 0.84
Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented? JIMD Rep (2014) 0.83
Nutritional content of modular feeds: how accurate is feed production? Arch Dis Child (2013) 0.83
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. Orphanet J Rare Dis (2013) 0.83
Influence of knowledge of the disease on metabolic control in phenylketonuria. Eur J Pediatr (2003) 0.82
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters. J Inherit Metab Dis (2012) 0.81
PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings. Mol Genet Metab (2011) 0.81
Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases. Mol Genet Metab (2012) 0.81
Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative? J Inherit Metab Dis (2012) 0.80
Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions. J Inherit Metab Dis (2015) 0.80
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin Chem (2006) 0.79
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium. JIMD Rep (2015) 0.78
Single amino acid supplementation in aminoacidopathies: a systematic review. Orphanet J Rare Dis (2014) 0.77
Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding? Mol Genet Metab (2013) 0.77
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. JIMD Rep (2015) 0.76
No evidence for individual blood-brain barrier phenylalanine transport to influence clinical outcome in typical phenylketonuria patients. Ann Neurol (2002) 0.76
Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses. Mol Genet Metab (2012) 0.76
Clinical pathways for inborn errors of metabolism: warranted and feasible. Orphanet J Rare Dis (2013) 0.75
Family conditions and dietary control in IEMs. J Inherit Metab Dis (2007) 0.75
Erratum to: In vitro digestion of starches in a dynamic gastrointestinal model: an innovative study to optimize dietary management of patients with hepatic glycogen storage diseases. J Inherit Metab Dis (2015) 0.75
Methodological improvement of publications in the JIMD. Better is the enemy of good--Voltaire. J Inherit Metab Dis (2010) 0.75
Weight Management in Phenylketonuria: What Should Be Monitored. Ann Nutr Metab (2015) 0.75
Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet A (2013) 0.75