Published in Genet Med on November 01, 2007
Cardiac teratogenicity in mouse maternal phenylketonuria: defining phenotype parameters and genetic background influences. Mol Genet Metab (2012) 1.41
Nutritional management of PKU with glycomacropeptide from cheese whey. J Inherit Metab Dis (2008) 1.15
Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria. J Inherit Metab Dis (2011) 0.87
Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria. Mol Genet Metab (2011) 0.85
Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria. Mol Genet Metab Rep (2016) 0.81
Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria. J Am Diet Assoc (2010) 0.79
A randomized, placebo-controlled, double-blind trial of supplemental docosahexaenoic acid on cognitive processing speed and executive function in females of reproductive age with phenylketonuria: A pilot study. Prostaglandins Leukot Essent Fatty Acids (2011) 0.77
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial. Orphanet J Rare Dis (2017) 0.75
The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis (2017) 0.75
Leptin reverses insulin resistance and hepatic steatosis in patients with severe lipodystrophy. J Clin Invest (2002) 4.75
Overexpression of uncoupling protein 3 in skeletal muscle protects against fat-induced insulin resistance. J Clin Invest (2007) 1.91
Newborn dried bloodspot screening: mapping the clinical and public health components and activities. Genet Med (2009) 1.59
Health perceptions and demographic characteristics associated with underassessment of body weight. Obesity (Silver Spring) (2008) 1.52
Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin (2005) 1.42
Effect of weight loss on insulin sensitivity and intramuscular long-chain fatty acyl-CoAs in morbidly obese subjects. Diabetes (2002) 1.40
Medical foods: inborn errors of metabolism and the reimbursement dilemma. Genet Med (2010) 1.38
Perceived health risk of excess body weight among overweight and obese men and women: differences by sex. Prev Med (2008) 1.23
Urea cycle disorders: clinical presentation outside the newborn period. Crit Care Clin (2005) 1.23
Differential effects of rosiglitazone on skeletal muscle and liver insulin resistance in A-ZIP/F-1 fatless mice. Diabetes (2003) 1.19
Long-term speech and language developmental issues among children with Duarte galactosemia. Genet Med (2009) 1.18
Diagnosing mucopolysaccharidosis IVA. J Inherit Metab Dis (2013) 1.14
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. Mol Genet Metab (2009) 1.11
Phenylbutyrate therapy for maple syrup urine disease. Hum Mol Genet (2010) 1.05
Management of fatty acid oxidation disorders: a survey of current treatment strategies. J Am Diet Assoc (2002) 1.02
Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene. Genet Med (2006) 1.01
Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet (2005) 1.00
Verbal dyspraxia and galactosemia. Pediatr Res (2003) 0.98
The effect of dystocia and previous cesarean uterine scar on the tensile properties of the lower uterine segment. Am J Obstet Gynecol (2006) 0.94
Diagnosis and management of defects of mitochondrial beta-oxidation. Curr Opin Clin Nutr Metab Care (2002) 0.92
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. Mol Genet Metab (2012) 0.86
Considerations in the difficult-to-manage urea cycle disorder patient. Crit Care Clin (2005) 0.85
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. Indian J Hum Genet (2011) 0.84
Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst Rev (2008) 0.83
A cross-sectional study of docosahexaenoic acid status and cognitive outcomes in females of reproductive age with phenylketonuria. J Inherit Metab Dis (2011) 0.83
A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. J Chromatogr B Analyt Technol Biomed Life Sci (2011) 0.82
Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry. Anal Chem (2010) 0.82
Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors. Genet Med (2004) 0.82
Insurance coverage of medical foods for treatment of inherited metabolic disorders. Genet Med (2013) 0.80
Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease. J Inherit Metab Dis (2010) 0.79
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. J Inherit Metab Dis (2010) 0.79
Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria. J Am Diet Assoc (2010) 0.79
Genetic counseling issues in urea cycle disorders. Crit Care Clin (2005) 0.78
Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst Rev (2015) 0.77
Perspectives on dietary adherence among women with inborn errors of metabolism. J Am Diet Assoc (2010) 0.77
Accuracy of six anthropometric skinfold formulas versus air displacement plethysmography for estimating percent body fat in female adolescents with phenylketonuria. JIMD Rep (2012) 0.77
The effects of sapropterin on urinary monoamine metabolites in phenylketonuria. Mol Genet Metab (2013) 0.75
Lower mitochondrial DNA and altered mitochondrial fuel metabolism in hiv-exposed uninfected infants in cameroon. AIDS (2017) 0.75