Julia B Hennermann

Summary

Affiliation: Humboldt University
Country: Germany

Publications

  1. doi Features and outcome of galactokinase deficiency in children diagnosed by newborn screening
    Julia B Hennermann
    Department of Pediatrics, Charite Universitatsmedizin Berlin, Berlin, Germany
    J Inherit Metab Dis 34:399-407. 2011
  2. pmc Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
    Sarah C Grünert
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Orphanet J Rare Dis 8:6. 2013
  3. ncbi Chronic kidney disease in adolescent and adult patients with phenylketonuria
    Julia B Hennermann
    Department of Pediatric Endocrinology, Gastroenterology and Metabolic Diseases, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    J Inherit Metab Dis 36:747-56. 2013
  4. doi False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency
    Julia B Hennermann
    Department of Pediatrics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany
    J Inherit Metab Dis 32:S355-9. 2009
  5. doi Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders
    Julia B Hennermann
    Otto Heubner Center for Pediatric and Adolescent Medicine, Charite Universitatsmedizin Berlin, Germany
    Mol Genet Metab 107:294-301. 2012
  6. doi Prediction of long-term outcome in glycine encephalopathy: a clinical survey
    Julia B Hennermann
    Department of Pediatrics, Charite Universitatsmedizin, Augustenburger Platz 1, 13353, Berlin, Germany
    J Inherit Metab Dis 35:253-61. 2012
  7. ncbi Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria
    Julia B Hennermann
    Otto Heubner Center for Pediatric and Adolescent Medicine, Charite University Medical Center, Campus Virchow Klinikum, Humboldt University, Berlin, Germany
    J Perinat Med 32:383-5. 2004
  8. ncbi Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria
    Julia B Hennermann
    Otto Heubner Center for Pediatric and Adolescent Medicine, Charite University Medical Center, Campus Virchow Klinikum, Berlin, Germany
    Mol Genet Metab 86:S86-90. 2005

Collaborators

  • Jutta Gellermann
  • Nenad Blau
  • Ursula Plockinger
  • Sarah C Grünert
  • Thomas Meissner
  • Daniela Karall
  • Kerstin Walter
  • Hans Georg Koch
  • Martin Lindner
  • Matthias R Baumgartner
  • Jorn Oliver Sass
  • Thorsten Marquardt
  • Melanie Walter
  • Agnes van Teeffelen-Heithoff
  • Regina Ensenauer
  • Claudia Haase
  • Sabine Scholl-Burgi
  • Terttu Suormala
  • Jan P Kraus
  • Karl Otfried Schwab
  • Andrea Superti-Furga
  • Michaela Brunner-Krainz
  • Michael Barth
  • Vassiliki Konstantopoulou
  • Linda De Silva
  • Rene Santer
  • Stephanie Müllerleile
  • Ina Knerr
  • Olaf A Bodamer
  • Robert Steinfeld
  • Skadi Beblo
  • Wolfgang Sperl

Detail Information

Publications8

  1. doi Features and outcome of galactokinase deficiency in children diagnosed by newborn screening
    Julia B Hennermann
    Department of Pediatrics, Charite Universitatsmedizin Berlin, Berlin, Germany
    J Inherit Metab Dis 34:399-407. 2011
    ..As our data suggest, GALK-D should be considered for inclusion in NBS in populations expected to have substantial numbers of GALK-D carriers, e.g., Yugoslavian immigrants...
  2. pmc Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
    Sarah C Grünert
    Labor für Klinische Biochemie und Stoffwechsel, Zentrum für Kinder und Jugendmedizin, Universitatsklinikum Freiburg, Freiburg, Germany
    Orphanet J Rare Dis 8:6. 2013
    ..Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited...
  3. ncbi Chronic kidney disease in adolescent and adult patients with phenylketonuria
    Julia B Hennermann
    Department of Pediatric Endocrinology, Gastroenterology and Metabolic Diseases, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    J Inherit Metab Dis 36:747-56. 2013
    ..The effect of a long-term PKU diet on renal function and blood pressure has not been investigated yet...
  4. doi False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency
    Julia B Hennermann
    Department of Pediatrics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany
    J Inherit Metab Dis 32:S355-9. 2009
    ..Therefore, newborns presenting with a positive screening indicating GA I may be considered not only to suffer from GA I but from renal insufficiency as well...
  5. doi Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders
    Julia B Hennermann
    Otto Heubner Center for Pediatric and Adolescent Medicine, Charite Universitatsmedizin Berlin, Germany
    Mol Genet Metab 107:294-301. 2012
    ..A clear defined protocol is necessary to install long-term BH4 treatment...
  6. doi Prediction of long-term outcome in glycine encephalopathy: a clinical survey
    Julia B Hennermann
    Department of Pediatrics, Charite Universitatsmedizin, Augustenburger Platz 1, 13353, Berlin, Germany
    J Inherit Metab Dis 35:253-61. 2012
    ..Attenuated variants with a significantly better outcome have been reported. Early prediction of long-term outcome is not yet possible...
  7. ncbi Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria
    Julia B Hennermann
    Otto Heubner Center for Pediatric and Adolescent Medicine, Charite University Medical Center, Campus Virchow Klinikum, Humboldt University, Berlin, Germany
    J Perinat Med 32:383-5. 2004
    ..Prematurity and the resulting immaturity of liver function with the genetically determined reduced activity of phenylalanine hydroxylase might have caused hyperphenylalaninemia in this girl...
  8. ncbi Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria
    Julia B Hennermann
    Otto Heubner Center for Pediatric and Adolescent Medicine, Charite University Medical Center, Campus Virchow Klinikum, Berlin, Germany
    Mol Genet Metab 86:S86-90. 2005
    ..We conclude that BH4 sensitivity is not restricted to mild hyperphenylalaninemia and that long-term BH4 treatment may also improve phenylalanine tolerance in a considerable number of children with a more severe PKU phenotype...