Rene Santer

Summary

Affiliation: University of Kiel
Country: Germany

Publications

  1. ncbi request reprint Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
    R Santer
    University Children s Hospital, Kiel, Germany
    Eur J Pediatr 157:783-97. 1998
  2. ncbi request reprint Long-term outcome of renal glucosuria type 0: the original patient and his natural history
    Sabine Scholl-Burgi
    Department of Pediatrics, Medical School Hannover, Hannover, Germany
    Nephrol Dial Transplant 19:2394-6. 2004
  3. ncbi request reprint Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects
    R Santer
    Department of General Pediatrics, University Children s Hospital Kiel, Germany
    Mol Genet Metab 79:160-6. 2003
  4. ncbi request reprint Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency
    Rene Santer
    Department of Pediatrics, University of Kiel, Germany
    Clin Chem 49:660-2. 2003
  5. ncbi request reprint Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans
    Rene Santer
    University Children s Hospital, Schwanenweg 20, D 24105 Kiel, Germany
    Gastroenterology 124:34-9. 2003
  6. ncbi request reprint Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport
    R Santer
    Department of Pediatrics, University Children s Hospital, Kiel, Germany
    Curr Mol Med 2:213-27. 2002
  7. ncbi request reprint The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome
    Rene Santer
    Department of Pediatrics, University Children s Hospital, Schwanenweg 20, 24105 Kiel, Germany
    Hum Genet 110:21-9. 2002
  8. ncbi request reprint Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands
    R Santer
    Department of Pediatrics, University Children s Hospital, Kiel, Germany
    Eur J Hum Genet 9:388-91. 2001
  9. ncbi request reprint Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome
    R Santer
    Department of Pediatrics, University Children s Hospital, Kiel, Germany
    Hum Genet 108:66-71. 2001
  10. ncbi request reprint Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients
    R Santer
    Dept of Pediatrics, University Children s Hospital, Kiel, Germany
    Hum Mutat 16:177. 2000

Detail Information

Publications15

  1. ncbi request reprint Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
    R Santer
    University Children s Hospital, Kiel, Germany
    Eur J Pediatr 157:783-97. 1998
    ..We further summarize the historical observations that eventually led to the identification of the basic defect of FBS and give an overview of the 82 cases from 70 families in the published literature and from personal communications...
  2. ncbi request reprint Long-term outcome of renal glucosuria type 0: the original patient and his natural history
    Sabine Scholl-Burgi
    Department of Pediatrics, Medical School Hannover, Hannover, Germany
    Nephrol Dial Transplant 19:2394-6. 2004
  3. ncbi request reprint Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects
    R Santer
    Department of General Pediatrics, University Children s Hospital Kiel, Germany
    Mol Genet Metab 79:160-6. 2003
    ..This case illustrates mechanisms involved in the genotype-phenotype correlation that unequivocally exists in HCS deficiency...
  4. ncbi request reprint Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency
    Rene Santer
    Department of Pediatrics, University of Kiel, Germany
    Clin Chem 49:660-2. 2003
  5. ncbi request reprint Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans
    Rene Santer
    University Children s Hospital, Schwanenweg 20, D 24105 Kiel, Germany
    Gastroenterology 124:34-9. 2003
    ..The aim of this study was to reevaluate the role of GLUT2 in a patient with congenital GLUT2 deficiency (Fanconi-Bickel syndrome, FBS)...
  6. ncbi request reprint Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport
    R Santer
    Department of Pediatrics, University Children s Hospital, Kiel, Germany
    Curr Mol Med 2:213-27. 2002
    ..An overview is also provided on recently discovered members of the rapidly growing family of facilitative glucose transporters, which are novel candidates for congenital disorders of carbohydrate metabolism...
  7. ncbi request reprint The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome
    Rene Santer
    Department of Pediatrics, University Children s Hospital, Schwanenweg 20, 24105 Kiel, Germany
    Hum Genet 110:21-9. 2002
    ..No mutational hot spots within SLC2A2 or even within homologous sequences among the genes for facilitative glucose transporters were detected...
  8. ncbi request reprint Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands
    R Santer
    Department of Pediatrics, University Children s Hospital, Kiel, Germany
    Eur J Hum Genet 9:388-91. 2001
    ..The detection of the molecular defect has facilitated the diagnosis and has offered the opportunity for prenatal diagnosis in this patient group...
  9. ncbi request reprint Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome
    R Santer
    Department of Pediatrics, University Children s Hospital, Kiel, Germany
    Hum Genet 108:66-71. 2001
    ....
  10. ncbi request reprint Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients
    R Santer
    Dept of Pediatrics, University Children s Hospital, Kiel, Germany
    Hum Mutat 16:177. 2000
    ..Hum Mutat 16:177, 2000...
  11. ncbi request reprint The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe
    Rene Santer
    Dept of Pediatrics, University Children s Hospital, Hamburg, Germany
    Hum Mutat 25:594. 2005
    ..Based on these data and after correction for less common and private ALDOB mutations, HFI prevalence in central Europe is estimated to be 1:26,100 (95% confidence interval 1: 12,600-79,000)...
  12. ncbi request reprint Molecular analysis of the SGLT2 gene in patients with renal glucosuria
    Rene Santer
    Department of Pediatrics, University of Kiel, Kiel, Germany
    J Am Soc Nephrol 14:2873-82. 2003
    ..We conclude that SGLT2 plays an important role in renal tubular glucose reabsorption. Inheritance of renal glucosuria shows characteristics of a codominant trait with variable penetrance...
  13. ncbi request reprint Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome
    Thomas Meissner
    Department of General Pediatrics, University Children s Hospital, Moorenstr 5, D 40225 Dusseldorf, Germany
    Clin Chim Acta 341:23-6. 2004
    ..Therefore, we investigated whether urinary concentration of alpha-ketoglutarate (alpha-KG) is elevated in patients with hyperinsulinism...
  14. doi request reprint Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing
    Ute Spiekerkoetter
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Pediatr 157:668-73. 2010
    ..To evaluate newborn screening (NBS) for very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), we further characterized newborns with elevation of one or all C14-carnitine derivatives on NBS from a total of 90 338 newborns...
  15. ncbi request reprint Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders
    Zoltan Lukacs
    Department of Pediatrics, Hamburg University Medical Center, Germany
    Mol Nutr Food Res 50:443-50. 2006
    ....