Published in J Inherit Metab Dis on May 10, 2011
Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria. Mol Genet Metab (2014) 0.93
Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria. J Inherit Metab Dis (2012) 0.84
The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: Effects across tasks and developmental stages. Neuropsychology (2017) 0.78
Dietary habits and metabolic control in adolescents and young adults with phenylketonuria: self-imposed protein restriction may be harmful. JIMD Rep (2013) 0.78
Phone-based motivational interviewing to increase self-efficacy in individuals with phenylketonuria. Mol Genet Metab Rep (2016) 0.77
Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis. J Inherit Metab Dis (2012) 0.75
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. J Hum Genet (2016) 0.75
The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis (2017) 0.75
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Development of intelligence in early treated phenylketonuria. Eur J Pediatr (2000) 1.98
Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab (2007) 1.86
Phenylketonuria (PKU): screening and management. NIH Consens Statement (2001) 1.38
White matter pathology in phenylketonuria. Mol Genet Metab (2010) 1.23
Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. Neuropsychol Rev (2007) 1.21
Intellectual development and academic achievement of children treated early for phenylketonuria. Dev Med Child Neurol (1979) 1.19
Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997. Eur J Pediatr (1999) 1.17
Psychosocial aspects of PKU: hidden disabilities--a review. Mol Genet Metab (2010) 1.16
Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet Metab (2010) 1.11
Are neuropsychological impairments in children with early-treated phenylketonuria (PKU) related to white matter abnormalities or elevated phenylalanine levels? Dev Neuropsychol (2007) 1.10
Executive function impairment in early-treated PKU subjects with normal mental development. J Inherit Metab Dis (2004) 1.09
Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review. J Inherit Metab Dis (2004) 1.06
School performance in early and continuously treated phenylketonuria. Pediatr Neurol (2005) 1.05
Psychological and social findings in adolescents with phenylketonuria. Eur J Pediatr (1992) 1.04
Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol Genet Metab (2008) 1.00
Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods. Genet Med (2007) 1.00
Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J Pediatr (1995) 0.98
Behaviour and school achievement in patients with early and continuously treated phenylketonuria. J Inherit Metab Dis (2000) 0.98
Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum. Mol Genet Metab (2010) 0.98
Patterns of academic achievement among patients treated early with phenylketonuria. Eur J Pediatr (2000) 0.96
A neuropsychological profile of off-diet adults with phenylketonuria. J Clin Exp Neuropsychol (2007) 0.93
Effects of dietary management of phenylketonuria on long-term cognitive outcome. Arch Dis Child (2006) 0.93
Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. Dev Med Child Neurol (2005) 0.91
Executive functioning in children and adolescents with phenylketonuria. Clin Genet (2007) 0.90
Beyond executive function: non-executive cognitive abilities in individuals with PKU. Mol Genet Metab (2010) 0.90
Executive functioning and speed of processing in phenylketonuria. Neuropsychology (2005) 0.90
ADHD, learning, and academic performance in phenylketonuria. Mol Genet Metab (2010) 0.89
Outcomes beyond phenylalanine: an international perspective. Mol Genet Metab (2010) 0.88
Summary of findings from the United States Collaborative Study of children treated for phenylketonuria. Eur J Pediatr (1996) 0.86
Quality of dietary control in phenylketonuric patients and its relationship with general intelligence. Nutr Hosp (2010) 0.82
Management of phenylketonuria for optimal outcome: a review of guidelines for phenylketonuria management and a report of surveys of parents, patients, and clinic directors. Pediatrics (1999) 0.81
Timing is everything: executive functions in children exposed to elevated levels of phenylalanine. Neuropsychology (2003) 0.80
Comments on the neuropathology of phenylketonuria. Eur J Pediatr (2000) 0.78
Psychoeducational findings among children treated for phenylketonuria. Am J Ment Defic (1987) 0.77
Event-related potential correlates of selective processing in early- and continuously-treated children with phenylketonuria: effects of concurrent phenylalanine level and dietary control. Mol Genet Metab (2010) 0.76
Phenylketonuria: no specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics. Pediatr Res (2002) 0.76
Six-year follow up of phenylalanine intakes and plasma phenylalanine concentrations. Eur J Pediatr (1990) 0.75
The effects of visual-spatial and verbal skills on written and mental arithmetic. J Am Optom Assoc (1987) 0.75
Validation of the 2009 TNM version in a large multi-institutional cohort of patients treated for renal cell carcinoma: are further improvements needed? Eur Urol (2010) 2.82
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology (2013) 2.32
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2009) 2.25
Frequency of KRAS, BRAF, and NRAS mutations in colorectal cancer. Genes Chromosomes Cancer (2011) 2.14
Septin 9 methylated DNA is a sensitive and specific blood test for colorectal cancer. BMC Med (2011) 1.93
Combination of bevacizumab and docetaxel in docetaxel-pretreated hormone-refractory prostate cancer: a phase 2 study. Eur Urol (2008) 1.91
Genotype-phenotype correlation in primary carnitine deficiency. Hum Mutat (2011) 1.91
A first prospective, randomized, double-blind, placebo-controlled clinical trial evaluating extracorporeal shock wave therapy for the treatment of Peyronie's disease. Eur Urol (2009) 1.91
Differential role of CD133 and CXCR4 in renal cell carcinoma. Cell Cycle (2010) 1.73
Response to chen et Al.: carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. Hum Mutat (2013) 1.67
Docetaxel, vinorelbine, and zoledronic acid as first-line treatment in patients with hormone refractory prostate cancer: a phase II study. Eur Urol (2007) 1.46
Renal transplantation does not improve erectile function in hemodialysed patients. Eur Urol (2008) 1.45
Correlation between detrusor collagen content and urinary symptoms in patients with prostatic obstruction. J Urol (2004) 1.45
Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab (2006) 1.44
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet (2006) 1.31
Phase II study of sorafenib in patients with sunitinib-refractory metastatic renal cell cancer. J Clin Oncol (2009) 1.27
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr (2009) 1.27
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet (2012) 1.26
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab (2007) 1.23
Cardiomyopathy and carnitine deficiency. Mol Genet Metab (2008) 1.22
Third-line sorafenib after sequential therapy with sunitinib and mTOR inhibitors in metastatic renal cell carcinoma. Eur Urol (2010) 1.20
The detrusor muscle: an innocent victim of bladder outlet obstruction. Eur Urol (2006) 1.20
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Hum Mutat (2005) 1.20
Simple enucleation is equivalent to traditional partial nephrectomy for renal cell carcinoma: results of a nonrandomized, retrospective, comparative study. J Urol (2011) 1.19
Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet (2006) 1.19
Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab (2006) 1.13
Chromophobe renal cell carcinoma (RCC): oncological outcomes and prognostic factors in a large multicentre series. BJU Int (2011) 1.10
Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency. Biochim Biophys Acta (2010) 1.07
Biochemical findings in common inborn errors of metabolism. Am J Med Genet C Semin Med Genet (2006) 1.06
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective. BMC Med Genomics (2012) 1.05
Antioxidant intake and risk of osteoporotic hip fracture in Utah: an effect modified by smoking status. Am J Epidemiol (2005) 1.03
Glutaric acidemia type 1: outcomes before and after expanded newborn screening. Mol Genet Metab (2012) 1.02
Adrenocortical carcinoma is a lynch syndrome-associated cancer. J Clin Oncol (2013) 1.02
Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum Mutat (2006) 0.97
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol (2013) 0.97
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis (2012) 0.96
Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter. J Biol Chem (2003) 0.95
Paclitaxel in pretreated metastatic penile cancer: final results of a phase 2 study. Eur Urol (2011) 0.93
A multicentre matched-pair analysis comparing robot-assisted versus open partial nephrectomy. BJU Int (2014) 0.92
Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency. J Biol Chem (2003) 0.91
Progressive cerebral vascular degeneration with mitochondrial encephalopathy. Am J Med Genet A (2008) 0.91
A new mouse model of Peyronie's disease: an increased expression of hypoxia-inducible factor-1 target genes during the development of penile changes. Int J Biochem Cell Biol (2008) 0.90
Involvement of beta 3-adrenergic receptor activation via cyclic GMP- but not NO-dependent mechanisms in human corpus cavernosum function. Proc Natl Acad Sci U S A (2003) 0.90
Phase 1/2 study of intravenous paclitaxel and oral cyclophosphamide in pretreated metastatic urothelial bladder cancer patients. Cancer (2009) 0.88
Medical expulsive therapy for distal ureteric stones: tamsulosin versus silodosin. Arch Ital Urol Androl (2014) 0.88
Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. Pediatr Res (2009) 0.88
A report from a single institute's 14-year experience in treatment of male-to-female transsexuals. J Sex Med (2009) 0.88
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Am J Med Genet A (2004) 0.87
Creatine transporter deficiency in two half-brothers. Am J Med Genet A (2010) 0.86
Psychiatric symptoms in adults with phenylketonuria. Mol Genet Metab (2012) 0.86
Prognostic factors in a large multi-institutional series of papillary renal cell carcinoma. BJU Int (2011) 0.86
A Randomized Controlled Trial of the Food Dudes Program: Tangible Rewards Are More Effective Than Social Rewards for Increasing Short- and Long-Term Fruit and Vegetable Consumption. J Acad Nutr Diet (2015) 0.85
Alternative therapies to address the unmet medical needs of patients with phenylketonuria. Expert Opin Pharmacother (2015) 0.85
Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report. JIMD Rep (2011) 0.84
Activity and toxicity of paclitaxel in pretreated metastatic penile cancer patients. Anticancer Drugs (2009) 0.84
Risk of mortality with vitamin E supplements: the Cache County study. Am J Med (2007) 0.84
A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics. Mol Genet Metab (2012) 0.82
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Mol Genet Metab (2006) 0.82
Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype. Am J Med Genet A (2004) 0.82
A new biopsy technique to investigate Peyronie's disease associated histologic alterations: results with two different forms of therapy. Eur Urol (2002) 0.81
External validation of the preoperative Karakiewicz nomogram in a large multicentre series of patients with renal cell carcinoma. World J Urol (2012) 0.80
Using information prescriptions to refer patients with metabolic conditions to the Genetics Home Reference website. J Med Libr Assoc (2011) 0.80
Increased self-efficacy for vegetable preparation following an online, skill-based intervention and in-class tasting experience as a part of a general education college nutrition course. Am J Health Promot (2011) 0.80
Recurrent liver failure in a 25-year-old female. Liver Transpl (2010) 0.80
The study of spermatic DNA fragmentation and sperm motility in infertile subjects. Arch Ital Urol Androl (2013) 0.80
Evaluation of an alternative dosing regimen with tadalafil, three times per week, for men with erectile dysfunction: SURE study in Italy. Asian J Androl (2007) 0.80
Carboplatin plus etoposide in heavily pretreated castration-resistant prostate cancer patients. Future Oncol (2014) 0.79
Thromboprophylaxis in radical retropubic prostatectomy: efficacy and patient compliance of a dual modality. Urol Int (2009) 0.78
Developing a National Registry for conditions identifiable through newborn screening. Genet Med (2009) 0.78
Skin carotenoids: a biomarker of fruit and vegetable intake in children. J Acad Nutr Diet (2014) 0.78
The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders. Biochem Biophys Res Commun (2013) 0.78
Biochemical abnormalities in Pearson syndrome. Am J Med Genet A (2015) 0.77
The RSH/"Smith-Lemli-Opitz" syndrome: historical footnote. Am J Med Genet C Semin Med Genet (2012) 0.77
TriMatch comparison of the efficacy of FloSeal versus TachoSil versus no hemostatic agents for partial nephrectomy: results from a large multicenter dataset. Int J Urol (2014) 0.77
Gene expression in human cells with mutant insulin receptors. Biochem Biophys Res Commun (2003) 0.77
6q subtelomeric deletion: is there a recognizable syndrome? Clin Dysmorphol (2004) 0.76
Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency. Mol Genet Metab (2013) 0.76
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency. J Inherit Metab Dis (2013) 0.76
A new therapeutic approach to erectile dysfunction: urotensin-II receptor high affinity agonist ligands. Asian J Androl (2015) 0.75
Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. J Dev Behav Pediatr (2016) 0.75
Round Table Discussion. Ann Nutr Metab (2016) 0.75
Risk factors, prevalence, and site concordance of human papillomavirus in high-risk Greek men. Eur J Cancer Prev (2017) 0.75
Newborn screening and inborn errors of metabolism. Am J Med Genet C Semin Med Genet (2011) 0.75
Skin Carotenoid Response to a High-Carotenoid Juice in Children: A Randomized Clinical Trial. J Acad Nutr Diet (2015) 0.75
Ejaculatory abstinence influences intravaginal ejaculatory latency time: results from a prospective randomized trial. Urol Int (2012) 0.75
Prognostic role of tumour multifocality in renal cell carcinoma. BJU Int (2012) 0.75
SIMD statement on investigational new drugs for rare disease therapies. Mol Genet Metab (2012) 0.75
The impact of non-urologic drugs on sexual function in men. Arch Ital Urol Androl (2014) 0.75
First Italian experience in single-incision laparoscopic nephrectomy. Surg Technol Int (2010) 0.75
Demographic and comorbidity profile of patients with lower urinary tract symptoms suggestive of benign prostatic hyperplasia in a real-life clinical setting: Are 5-alpha-reductase inhibitor consumers different? World J Urol (2014) 0.75
A case of highly aggressive anaplastic seminoma of the testis presenting as fungating scrotal lesion. Arch Ital Urol Androl (2017) 0.75
A rare case of male pelvic squamous cell carcinoma of unknown primary origin presenting as perineal abscess and urethral stenosis. Arch Ital Urol Androl (2017) 0.75