Johannes Haberle

Summary

Affiliation: University Children's Hospital
Country: Switzerland

Publications

  1. doi request reprint Clinical practice: the management of hyperammonemia
    Johannes Haberle
    Kinderspital Zurich, Division of Metabolism, University Children s Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Eur J Pediatr 170:21-34. 2011
  2. ncbi request reprint TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations
    Johannes Haberle
    Universitatsklinikum Munster, Klinik und Poliklinik für Kinder und Jugendmedizin, Munster, Germany
    J Hum Genet 54:331-4. 2009
  3. pmc Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
    Corinne M Rüegger
    Division of Metabolism, University Children s Hospital, Steinwiesstr 75, 8032, Zurich, Switzerland
    J Inherit Metab Dis 37:21-30. 2014
  4. pmc Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency
    Johannes Haberle
    Kinderspital Zurich, Abteilung Stoffwechsel, Zurich, Switzerland
    Ther Clin Risk Manag 7:327-32. 2011
  5. pmc Genetic basis of hyperlysinemia
    Sander M Houten
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, AZ 1105, The Netherlands
    Orphanet J Rare Dis 8:57. 2013
  6. doi request reprint Clinical and biochemical aspects of primary and secondary hyperammonemic disorders
    Johannes Haberle
    Division of Metabolism, University Children s Hospital Zurich, Steinwiesstr 75, 8032 Zurich, Switzerland
    Arch Biochem Biophys 536:101-8. 2013
  7. pmc Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance
    Johannes Haberle
    Division of Metabolism and Children s Research Center, University Children s Hospital Zurich, Zurich, Switzerland
    Orphanet J Rare Dis 7:48. 2012
  8. pmc Suggested guidelines for the diagnosis and management of urea cycle disorders
    Johannes Haberle
    University Children s Hospital Zurich and Children s Research Centre, Zurich, 8032, Switzerland
    Orphanet J Rare Dis 7:32. 2012
  9. doi request reprint Natural course of glutamine synthetase deficiency in a 3 year old patient
    Johannes Haberle
    University Children s Hospital Zurich, Division of Metabolism, 8032 Zurich, Switzerland
    Mol Genet Metab 103:89-91. 2011
  10. doi request reprint Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations
    Johannes Haberle
    University Children s Hospital Zurich, Division of Metabolism, Zurich, Switzerland
    Hum Mutat 32:579-89. 2011

Collaborators

Detail Information

Publications27

  1. doi request reprint Clinical practice: the management of hyperammonemia
    Johannes Haberle
    Kinderspital Zurich, Division of Metabolism, University Children s Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Eur J Pediatr 170:21-34. 2011
    ..This review focuses on a better understanding of factors leading to ammonia elevations and on practical aspects related to diagnosis and treatment in order to improve clinical management of hyperammonemia...
  2. ncbi request reprint TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations
    Johannes Haberle
    Universitatsklinikum Munster, Klinik und Poliklinik für Kinder und Jugendmedizin, Munster, Germany
    J Hum Genet 54:331-4. 2009
    ..This report shows that the use of cDNA from skin fibroblasts or peripheral lymphocytes facilitates genetic investigations of suspected TC II deficiency and helps to avoid false-negative DNA analysis...
  3. pmc Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
    Corinne M Rüegger
    Division of Metabolism, University Children s Hospital, Steinwiesstr 75, 8032, Zurich, Switzerland
    J Inherit Metab Dis 37:21-30. 2014
    ..To improve the outcome of UCDs, a greater awareness by health professionals of the importance of hyperammonemia and UCDs, and ultimately avoidance of the still long delay to correctly diagnose the patients, is crucial. ..
  4. pmc Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency
    Johannes Haberle
    Kinderspital Zurich, Abteilung Stoffwechsel, Zurich, Switzerland
    Ther Clin Risk Manag 7:327-32. 2011
    ....
  5. pmc Genetic basis of hyperlysinemia
    Sander M Houten
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, AZ 1105, The Netherlands
    Orphanet J Rare Dis 8:57. 2013
    ..To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia...
  6. doi request reprint Clinical and biochemical aspects of primary and secondary hyperammonemic disorders
    Johannes Haberle
    Division of Metabolism, University Children s Hospital Zurich, Steinwiesstr 75, 8032 Zurich, Switzerland
    Arch Biochem Biophys 536:101-8. 2013
    ..This paper will discuss the biochemical background of primary and secondary hyperammonemia and will give an overview of the various underlying conditions including a brief clinical outline and information on the genetic backgrounds. ..
  7. pmc Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance
    Johannes Haberle
    Division of Metabolism and Children s Research Center, University Children s Hospital Zurich, Zurich, Switzerland
    Orphanet J Rare Dis 7:48. 2012
    ..There was some clinical improvement but the patient had a long standing severe encephalopathy. Earlier supplementation with glutamine might have prevented some of the neuronal damage...
  8. pmc Suggested guidelines for the diagnosis and management of urea cycle disorders
    Johannes Haberle
    University Children s Hospital Zurich and Children s Research Centre, Zurich, 8032, Switzerland
    Orphanet J Rare Dis 7:32. 2012
    ..We believe these guidelines will help to: harmonise practice, set common standards and spread good practices with a positive impact on the outcomes of UCD patients...
  9. doi request reprint Natural course of glutamine synthetase deficiency in a 3 year old patient
    Johannes Haberle
    University Children s Hospital Zurich, Division of Metabolism, 8032 Zurich, Switzerland
    Mol Genet Metab 103:89-91. 2011
    ..He presented neonatal seizures and developed chronic encephalopathy. Thus, GS deficiency leads to severe neurological disease but is not always early lethal...
  10. doi request reprint Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations
    Johannes Haberle
    University Children s Hospital Zurich, Division of Metabolism, Zurich, Switzerland
    Hum Mutat 32:579-89. 2011
    ..This is the first large-scale report of CPS1 mutations spanning a wide variety of molecular defects highlighting important regions in this protein...
  11. ncbi request reprint Inborn error of amino acid synthesis: human glutamine synthetase deficiency
    Johannes Haberle
    Klinik und Poliklinik für Kinder und Jugendmedizin, Universitatsklinikum Munster, Albert Schweitzer Str 33, 48129, Munster, Germany
    J Inherit Metab Dis 29:352-8. 2006
    ..Deficiency of GS has to be added to the list of inherited metabolic disorders as a rare example of a defect in the biosynthesis of an amino acid...
  12. pmc Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria
    Liyan Hu
    From the Division of Metabolism, University Children s Hospital, 8032 Zurich, Switzerland
    J Biol Chem 288:34599-611. 2013
    ..Especially, the exon 2-deleted ASL variant may form a heterotetramer with wild type or mutant ASL, causing markedly reduced ASL activity. ..
  13. doi request reprint Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria
    Katharina Engel
    Klinik und Poliklinik für Kinder und Jugendmedizin, Universitatsklinikum Munster, Albert Schweitzer Str 33, 48149 Muenster, Germany
    J Inherit Metab Dis 35:133-40. 2012
    ..Mutation/phenotype correlation studies are needed to characterize the effects of individual mutations on the activity of the enzyme...
  14. ncbi request reprint Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies
    Eva Schmidt
    Universitatsklinikum Munster, Klinik fur Kinder und Jugendmedizin, Albert Schweitzer Str 33, 48149 Munster, Germany
    Biochim Biophys Acta 1740:54-9. 2005
    ..In conclusion, overexpression of wild type and mutated NAGS proteins in E. coli provides a suitable tool for functional analysis of NAGS deficiency...
  15. ncbi request reprint Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency
    Katharina Engel
    Universitatsklinikum Munster, Klinik und Poliklinik für Kinder und Jugendmedizin, Albert Schweitzer Strasse 33, 48149 Munster, Germany
    Mol Genet Metab 94:292-7. 2008
    ..However, in about 20% of the patients with enzymatically confirmed OTC deficiency no mutation can be detected when sequencing of genomic DNA analyzing exons and adjacent intronic segments of the OTC gene is performed...
  16. ncbi request reprint Genetic approach to prenatal diagnosis in urea cycle defects
    Johannes Haberle
    Universitatsklinikum Munster, Klinik und Poliklinik für Kinderheilkunde, Munster, Germany
    Prenat Diagn 24:378-83. 2004
    ..To demonstrate the feasibility of prenatal diagnosis by molecular genetics in all urea cycle defects in order to improve and standardize the current approaches...
  17. doi request reprint Investigation of citrullinemia type I variants by in vitro expression studies
    Christoph Berning
    Universitatsklinikum Munster, Klinik und Poliklinik für Kinder und Jugendmedizin, Munster, Germany
    Hum Mutat 29:1222-7. 2008
    ..This study should guide clinicians as well as patients with mild citrullinemia toward a lifelong awareness of the disorder...
  18. ncbi request reprint Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene
    Katharina Engel
    Universitatsklinikum Munster, Klinik und Poliklinik für Kinder und Jugendmedizin, Munster, Germany
    Hum Mutat 30:300-7. 2009
    ..Enzymatic studies have been done in bacterial and human cell systems. However, the prognostic value of genetic aberrations with respect to their effect on protein function and clinical manifestation remains uncertain...
  19. doi request reprint Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1
    Rita Kretz
    University Children s Hospital Zurich, Division of Metabolism and Children s Research Center, Zurich, Switzerland
    Mol Genet Metab 106:375-8. 2012
    ..In conclusion, the presented approach improves the diagnostics of CPS1 deficiency. Besides the shortened time to diagnosis, the method is of particular importance for confirmation of findings of next generation sequencing and gene chips...
  20. ncbi request reprint Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)
    Johannes Haberle
    Universitatsklinikum Munster, Klinik und Poliklinik für Kinderheilkunde, Albert Schweitzer Strasse 33, D 48149 Munster, Germany
    Mol Genet Metab 80:302-6. 2003
    ..According to the mutations found in this study, mild citrullinemia seems to be primarily related to the human ASS gene, at least in patients of caucasian origin...
  21. doi request reprint Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples
    Ralph Fingerhut
    University Children s Hospital, Zurich, Switzerland
    J Inherit Metab Dis 33:S235-9. 2010
    ....
  22. doi request reprint Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene
    Cécile Balmer
    Division of Metabolism, University Children s Hospital, Zurich, Switzerland Children s Research Center, Zurich, Switzerland
    Hum Mutat 35:27-35. 2014
    ..The majority of mutations are missense changes including some with more frequent occurrence such as p.Arg12Gln, p.Ile100Thr, p.Val178Met, p.Arg186Trp, p.Glu189Gly, p.Gln286Arg, and p.Arg385Cys. ..
  23. ncbi request reprint Congenital glutamine deficiency with glutamine synthetase mutations
    Johannes Haberle
    Universitatsklinikum Munster, Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin, Munster, Germany
    N Engl J Med 353:1926-33. 2005
    ..Studies that used immortalized lymphocytes expressing R324C glutamine synthetase (R324C-GS) and COS7 cells expressing R341C-GS suggest that these mutations are associated with reduced glutamine synthetase activity...
  24. ncbi request reprint Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene
    Michael Linnebank
    Universitatsklinikum Munster, Klinik und Poliklinik fuer Kinderheilkunde, 48149 Munster, Germany
    Hum Genet 111:350-9. 2002
    ..1153C-->T (4). This study introduces a system for mutation analysis in the ASL gene, thereby elucidating the genetic background of ASL deficiency, which was found to be associated with considerable allelic heterogeneity...
  25. doi request reprint Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities
    Rita Kretz
    Division of Metabolism, Kinderspital Zurich, Pediatric Research Centre, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    J Inherit Metab Dis 34:731-9. 2011
    ..However, the exact pathogenesis of this new disorder and the role of proline in the development of the clinical phenotype remain to be fully explained...
  26. ncbi request reprint Mutation analysis in patients with N-acetylglutamate synthase deficiency
    Johannes Haberle
    Universitatsklinikum Munster, Klinik und Poliklinik für Kinderheilkunde, Munster, Germany
    Hum Mutat 21:593-7. 2003
    ..This is the first report of mutation analysis in a series of families affected with deficiency of NAGS. Molecular analysis of patients and reliable antenatal diagnostics for affected families are now feasible...
  27. ncbi request reprint Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy
    Alexander Laemmle
    Division of Metabolic Diseases, University Children s Hospital, Zurich, Switzerland
    Eur J Pediatr 173:971-4. 2014
    ..Therefore, patients with DCM should receive a comprehensive diagnostic evaluation including selective screening for inborn errors of metabolism. ..