Julia B Hennermann
Affiliation: Humboldt University
- Features and outcome of galactokinase deficiency in children diagnosed by newborn screeningJulia 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...
- Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patientsSarah 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...
- Chronic kidney disease in adolescent and adult patients with phenylketonuriaJulia 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...
- False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiencyJulia 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...
- Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term respondersJulia 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...
- Prediction of long-term outcome in glycine encephalopathy: a clinical surveyJulia 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...
- Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuriaJulia 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...
- Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuriaJulia 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...