PubRank

Regina Ensenauer

Author PubWeight™ 26.04‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat 2003 1.86
2 Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 2006 1.63
3 Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 2010 1.31
4 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet 2003 1.27
5 The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population. J Inherit Metab Dis 2010 1.24
6 The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet 2008 1.16
7 Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. Orphanet J Rare Dis 2012 1.10
8 Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis 2013 1.04
9 Cellular signaling of amino acids towards mTORC1 activation in impaired human leucine catabolism. J Nutr Biochem 2012 1.01
10 Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency. Anal Chem 2009 0.96
11 Gestational weight gain and overweight in children: Results from the cross-sectional German KiGGS study. Int J Pediatr Obes 2010 0.95
12 Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat 2008 0.94
13 Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. J Inherit Metab Dis 2011 0.92
14 Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients. Genet Med 2003 0.91
15 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Mol Genet Metab 2007 0.91
16 Digital image analysis approach for lipid droplet size quantitation of Oil Red O-stained cultured cells. Anal Biochem 2013 0.91
17 Identification and characterization of new long chain acyl-CoA dehydrogenases. Mol Genet Metab 2010 0.89
18 Do trimester-specific cutoffs predict whether women ultimately stay within the Institute of Medicine/National Research Council guidelines for gestational weight gain? Findings of a retrospective cohort study. Am J Clin Nutr 2012 0.88
19 2p21 Deletions in hypotonia-cystinuria syndrome. Eur J Med Genet 2012 0.87
20 Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med 2007 0.87
21 Late pregnancy reversal from excessive gestational weight gain lowers risk of childhood overweight--a cohort study. Obesity (Silver Spring) 2013 0.86
22 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
23 Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome. Eur J Pediatr 2003 0.81
24 Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters. J Inherit Metab Dis 2012 0.81
25 Effects of trimester-specific and total gestational weight gain on children's anthropometrics. BMC Pregnancy Childbirth 2014 0.79
26 The liver x receptor in correlation with other nuclear receptors in spontaneous and recurrent abortions. PPAR Res 2013 0.76
27 The phenotypic spectrum of trisomy 2: report of two new cases. Clin Dysmorphol 2009 0.75
28 Increased hemoglobin A(1c) in obese pregnant women after exclusion of gestational diabetes. Clin Chem 2012 0.75