PubRank

Peter Burgard

Author PubWeight™ 27.93‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 2006 2.31
2 Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis 2011 2.14
3 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
4 Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res 2007 1.44
5 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
6 The reality of dietary compliance in the management of phenylketonuria. J Inherit Metab Dis 2010 1.37
7 Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 2010 1.31
8 Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res 2007 1.18
9 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
10 Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol 2003 1.12
11 Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: a meta-analysis. Neurosci Biobehav Rev 2008 0.97
12 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
13 Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis 2013 0.90
14 Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration background. Wien Klin Wochenschr 2005 0.88
15 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
16 Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation. J Inherit Metab Dis 2013 0.84
17 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
18 Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values. J Inherit Metab Dis 2010 0.84
19 Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters. J Inherit Metab Dis 2012 0.81
20 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
21 Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative? J Inherit Metab Dis 2012 0.80
22 Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin Chem 2006 0.79
23 Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium. JIMD Rep 2015 0.78
24 Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. JIMD Rep 2015 0.76
25 No evidence for individual blood-brain barrier phenylalanine transport to influence clinical outcome in typical phenylketonuria patients. Ann Neurol 2002 0.76
26 Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses. Mol Genet Metab 2012 0.76
27 Family conditions and dietary control in IEMs. J Inherit Metab Dis 2007 0.75
28 Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet A 2013 0.75
29 Methodological improvement of publications in the JIMD. Better is the enemy of good--Voltaire. J Inherit Metab Dis 2010 0.75