PubRank

René Santer

Author PubWeight™ 38.55‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 2012 2.46
2 Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 2005 2.44
3 High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 2005 2.09
4 Glyceroluria and neonatal hemochromatosis. J Pediatr Gastroenterol Nutr 2012 1.98
5 A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 2004 1.38
6 Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab 2007 1.28
7 SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007 1.27
8 Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol 2006 1.22
9 Long-term outcome of renal glucosuria type 0: the original patient and his natural history. Nephrol Dial Transplant 2004 1.18
10 von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. Blood 2002 1.16
11 Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion. Nephrol Dial Transplant 2008 1.16
12 Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet 2013 1.09
13 Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis 2013 1.04
14 Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol 2008 1.04
15 Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat 2006 1.01
16 Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion 2009 0.94
17 Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis 2009 0.94
18 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis 2012 0.94
19 Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. Mol Genet Metab 2011 0.93
20 Feeding patterns in breast-fed and formula-fed infants. Ann Nutr Metab 2002 0.90
21 Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis 2013 0.90
22 Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. J Inherit Metab Dis 2014 0.89
23 Nephrolithiasis in a child with glucose-galactose malabsorption. Pediatr Nephrol 2003 0.87
24 Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups. GMS Z Med Ausbild 2011 0.87
25 Effect of kidney disease on glucose handling (including genetic defects). Kidney Int Suppl 2011 0.86
26 A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. Hum Mutat 2004 0.85
27 Elements of diabetic nephropathy in a patient with GLUT 2 deficiency. Mol Genet Metab 2005 0.84
28 Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. JIMD Rep 2014 0.84
29 Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. Mol Genet Metab 2008 0.83
30 Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature. Liver Transpl 2014 0.83
31 High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria. Neurobiol Dis 2008 0.81
32 Fanconi-Bickel syndrome and fertility. Am J Med Genet A 2011 0.80
33 Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders. Mol Nutr Food Res 2006 0.78
34 Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency. Eur J Pediatr 2013 0.78
35 Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. JIMD Rep 2015 0.78
36 Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome. Clin Chim Acta 2004 0.76
37 A child with night blindness: preventing serious symptoms of Refsum disease. J Child Neurol 2011 0.75
38 Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature. J Pediatr Endocrinol Metab 2016 0.75
39 Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. Am J Med Genet A 2011 0.75
40 Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood. Neuropediatrics 2012 0.75
41 The boy with massive glucosuria. Nephrol Dial Transplant 2004 0.75