PubRank

Rani H Singh

Author PubWeight™ 21.45‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Newborn dried bloodspot screening: mapping the clinical and public health components and activities. Genet Med 2009 1.59
2 Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin 2005 1.42
3 Medical foods: inborn errors of metabolism and the reimbursement dilemma. Genet Med 2010 1.38
4 Urea cycle disorders: clinical presentation outside the newborn period. Crit Care Clin 2005 1.23
5 Long-term speech and language developmental issues among children with Duarte galactosemia. Genet Med 2009 1.18
6 Management of fatty acid oxidation disorders: a survey of current treatment strategies. J Am Diet Assoc 2002 1.02
7 Blood phenylalanine monitoring for dietary compliance among patients with phenylketonuria: comparison of methods. Genet Med 2007 1.00
8 Verbal dyspraxia and galactosemia. Pediatr Res 2003 0.98
9 Diagnosis and management of defects of mitochondrial beta-oxidation. Curr Opin Clin Nutr Metab Care 2002 0.92
10 Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. Mol Genet Metab 2012 0.86
11 Considerations in the difficult-to-manage urea cycle disorder patient. Crit Care Clin 2005 0.85
12 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
13 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
14 Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst Rev 2008 0.83
15 Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors. Genet Med 2004 0.82
16 Insurance coverage of medical foods for treatment of inherited metabolic disorders. Genet Med 2013 0.80
17 Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria. J Am Diet Assoc 2010 0.79
18 Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease. J Inherit Metab Dis 2010 0.79
19 Genetic counseling issues in urea cycle disorders. Crit Care Clin 2005 0.78
20 Protein substitute for children and adults with phenylketonuria. Cochrane Database Syst Rev 2015 0.77
21 Perspectives on dietary adherence among women with inborn errors of metabolism. J Am Diet Assoc 2010 0.77
22 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
23 The effects of sapropterin on urinary monoamine metabolites in phenylketonuria. Mol Genet Metab 2013 0.75