Thorsten Marquardt

Summary

Country: Germany

Publications

  1. ncbi request reprint Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia
    Thorsten Marquardt
    Klinik und Poliklinik für Kinderheilkunde, Albert Schweitzer Strasse 33, 48149 Munster, Germany
    Eur J Pediatr 161:524-7. 2002
  2. pmc A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy
    Christian Kranz
    Klinik fur Kinder und Jugendmedizin, Munster, Germany
    Am J Hum Genet 80:433-40. 2007
  3. 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
  4. ncbi request reprint Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies
    T Marquardt
    Klinik und Poliklinik für Kinderheilkunde, Albert Schweitzer Str 33, 48149 Munster, Germany
    Eur J Pediatr 162:359-79. 2003
  5. doi request reprint Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS)
    Jonas Denecke
    Department of Pediatrics, University Hospital of Munster, Albert Schweitzer Str 33, 48149, Munster, Germany
    Glycoconj J 25:375-82. 2008
  6. ncbi request reprint Leukocyte adhesion deficiency II: therapy and genetic defect
    Martin K Wild
    Institut fur Zellbiologie, Zentrum fur Molekularbiologie der Entzundung, Universitat Munster, Munster, Germany
    Cells Tissues Organs 172:161-73. 2002
  7. doi request reprint Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?
    Jonas Denecke
    University Hospital of Rostock, Department of Pediatrics, Rembrandtstrabetae 16 17, 18057 Rostock, Germany
    Biochim Biophys Acta 1792:915-20. 2009
  8. doi request reprint Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
    Frank Rutsch
    Department of General Pediatrics, Münster University Children s Hospital, Albert Schweitzer Strasse 33, D 48149 Munster, Germany
    Nat Genet 41:234-9. 2009
  9. pmc Kocuria rhizophila adds to the emerging spectrum of micrococcal species involved in human infections
    Karsten Becker
    University Hospital of Munster, Institute of Medical Microbiology, Domagkstr 10, 48149 Munster, Germany
    J Clin Microbiol 46:3537-9. 2008
  10. ncbi request reprint An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)
    Jonas Denecke
    Department of Pediatrics, University Hospital of Munster, Munster, Germany
    Hum Mutat 23:477-86. 2004

Collaborators

  • J Denecke
  • Frank Rutsch
  • Horst Robenek
  • Dietmar Vestweber
  • Martin K Wild
  • Ludwig Lehle
  • Hans-Georg Koch
  • Anil K Agarwal
  • Hermann Heimpel
  • Christof von Eiff
  • L M Neumann
  • Hans R Waterham
  • Janbernd Kirschner
  • M Linnebank
  • Ronald J A Wanders
  • K Becker
  • Christian Kranz
  • Sarah C Grünert
  • Yvonne Helmus
  • Hans Gerd Kehl
  • Erik Harms
  • Dijana Sagi
  • Jeannette Gootjes
  • Thomas Brune
  • Kristina Sohlbach
  • Josef Gehrmann
  • Synke Rutschow
  • Daniela Karall
  • Kerstin Walter
  • Matthias R Baumgartner
  • Regina Ensenauer
  • Sabine Scholl-Burgi
  • Jan P Kraus
  • Andrea Superti-Furga
  • Michael Barth
  • Vassiliki Konstantopoulou
  • Rene Santer
  • Stephanie Müllerleile
  • Ina Knerr
  • Wolfgang Sperl
  • Thomas Meissner
  • Martin Lindner
  • Jorn Oliver Sass
  • Melanie Walter
  • Agnes van Teeffelen-Heithoff
  • Claudia Haase
  • Terttu Suormala
  • Karl Otfried Schwab
  • Michaela Brunner-Krainz
  • Linda De Silva
  • Olaf A Bodamer
  • Robert Steinfeld
  • Skadi Beblo
  • Julia B Hennermann
  • Christoph Jungeblut
  • Ulrich Schwarzer
  • Helfried Grobe
  • Anna Reith
  • Gerhard Hammersen
  • Volker Debus
  • Sonja Reichel
  • Anne Erlekotte
  • Christina Sohlbach
  • Peter Robinson
  • Paraic J McGrogan
  • Diana L Watson
  • Kerstin Luhn
  • Sviatlana Yakubenia
  • Petra Kienz
  • Jasna Peter-Katalinic
  • M von Schutz
  • Rainer Rossi
  • Frank Schmohl
  • Meral Topcu
  • Jan A Smeitink
  • Nicolas Levy
  • Hanna Mandel
  • Stefanie Jeske
  • Petra A W Mooijer
  • Nursel Elcioglu
  • Raoul Cm Hennekam
  • Manfred Wehnert
  • Sonja Gudowius
  • Heval Ozgen
  • Beat Steinmann
  • Elisabeth Steichen
  • Martina Huemer
  • Gisele Bonne
  • Marjet Stamsnijder
  • Friedhelm Meinhardt

Detail Information

Publications22

  1. ncbi request reprint Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia
    Thorsten Marquardt
    Klinik und Poliklinik für Kinderheilkunde, Albert Schweitzer Strasse 33, 48149 Munster, Germany
    Eur J Pediatr 161:524-7. 2002
    ..The girl had multi-organ failure and signs of severe myocardial damage mimicking myocardial infarction...
  2. pmc A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy
    Christian Kranz
    Klinik fur Kinder und Jugendmedizin, Munster, Germany
    Am J Hum Genet 80:433-40. 2007
    ..Affected patients present with a very severe clinical phenotype, with death in early infancy. Two of the patients died from dilative cardiomyopathy...
  3. 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...
  4. ncbi request reprint Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies
    T Marquardt
    Klinik und Poliklinik für Kinderheilkunde, Albert Schweitzer Str 33, 48149 Munster, Germany
    Eur J Pediatr 162:359-79. 2003
    ..Since the clinical spectrum of symptoms in CDG is variable and may be unspecific, a generous selective screening for the presence of CDG is recommended...
  5. doi request reprint Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS)
    Jonas Denecke
    Department of Pediatrics, University Hospital of Munster, Albert Schweitzer Str 33, 48149, Munster, Germany
    Glycoconj J 25:375-82. 2008
    ....
  6. ncbi request reprint Leukocyte adhesion deficiency II: therapy and genetic defect
    Martin K Wild
    Institut fur Zellbiologie, Zentrum fur Molekularbiologie der Entzundung, Universitat Munster, Munster, Germany
    Cells Tissues Organs 172:161-73. 2002
    ..Thus, LAD II represents the first developmental and immune defect that is based on a malfunctioning nucleotide sugar transporter...
  7. doi request reprint Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?
    Jonas Denecke
    University Hospital of Rostock, Department of Pediatrics, Rembrandtstrabetae 16 17, 18057 Rostock, Germany
    Biochim Biophys Acta 1792:915-20. 2009
    ..In this review biochemical and genetic data are discussed and diagnostic methods based on biochemical observations of the recent years are reviewed...
  8. doi request reprint Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
    Frank Rutsch
    Department of General Pediatrics, Münster University Children s Hospital, Albert Schweitzer Strasse 33, D 48149 Munster, Germany
    Nat Genet 41:234-9. 2009
    ..This work identifies LMBRD1 as the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamin...
  9. pmc Kocuria rhizophila adds to the emerging spectrum of micrococcal species involved in human infections
    Karsten Becker
    University Hospital of Munster, Institute of Medical Microbiology, Domagkstr 10, 48149 Munster, Germany
    J Clin Microbiol 46:3537-9. 2008
    ..K. rhizophila expands the emerging number of "micrococci" considered to be etiologically relevant...
  10. ncbi request reprint An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)
    Jonas Denecke
    Department of Pediatrics, University Hospital of Munster, Munster, Germany
    Hum Mutat 23:477-86. 2004
    ..The results presented in this work demonstrate that factors abrogating NMD of the ALG3 gene exists and that the ALG3 gene can serve as a valuable tool for further investigations of the regulation of NMD...
  11. ncbi request reprint A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS
    Jonas Denecke
    Department of Pediatrics, University Hospital of Munster, Munster, Germany
    Hum Mutat 27:524-31. 2006
    ..The mutations of our patient indicate that farnesylated prelamin A is the deleterious agent leading to the HGPS phenotype, which gives further insights into the pathophysiology of the disorder...
  12. ncbi request reprint Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins
    Jonas Denecke
    Department of Pediatrics, University Hospital of Munster, 48149 Munster, Germany
    Pediatr Res 58:248-53. 2005
    ..Maternal or placental factors that partially compensate for the glycosylation defect in the fetal stage must be proposed and may be relevant for the therapy of these disorders in the future...
  13. ncbi request reprint Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter
    Yvonne Helmus
    Max Planck Institute of Molecular Biomedicine and Institute of Cell Biology, ZMBE, University of Munster, Von Esmarch Strasse 56, 48149 Munster, Germany
    Blood 107:3959-66. 2006
    ....
  14. pmc Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I
    Christian Kranz
    Klinik und Poliklinik für Kinderheilkunde, Muenster, Germany
    Am J Hum Genet 74:545-51. 2004
    ....
  15. ncbi request reprint Glycoproteomics of N-glycosylation by in-gel deglycosylation and matrix-assisted laser desorption/ionisation-time of flight mass spectrometry mapping: application to congenital disorders of glycosylation
    Dijana Sagi
    Institute for Medical Physics and Biophysics, University of Munster, Munster, Germany
    Proteomics 5:2689-701. 2005
    ....
  16. ncbi request reprint Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation
    Luitgard M Neumann
    Institute of Human Genetics, Charite Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
    Eur J Pediatr 162:710-3. 2003
    ..Mutation analysis of the phosphomannomutase 2 gene (PMM2) revealed homozygosity for a 647A>T (N216I) mutation in our patient and heterozygosity in his consanguineous parents...
  17. ncbi request reprint Cardiomyopathy in congenital disorders of glycosylation
    Josef Gehrmann
    Department of Pediatric Cardiology, Westfalische Wilhelms Universitat Munster Westf, Munster, Germany
    Cardiol Young 13:345-51. 2003
    ..Cardiac involvement contributes significantly to morbidity and mortality, and probably to sudden cardiac death in this disorder...
  18. ncbi request reprint A COG in the sugar machine
    Thorsten Marquardt
    Nat Med 10:457-8. 2004
  19. ncbi request reprint Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism
    Jeannette Gootjes
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands
    Hum Mutat 24:130-9. 2004
    ....
  20. ncbi request reprint p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria
    Janbernd Kirschner
    Division of Neuropediatrics and Muscle Disorders, University Children s Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany
    Ann Neurol 57:148-51. 2005
    ....
  21. ncbi request reprint Progeria: a new kind of Laminopathy-- report of the First European Symposium on Progeria and creation of EURO-Progeria, a European Consortium on Progeria and related disorders
    Thomas Brune
    Department of Paediatrics, University Children s Hospital, Magdeburg, Germany
    Pediatr Endocrinol Rev 2:39-45. 2004
    ..The main discussed topics as well as the developing research fields on progeria and related premature ageing disorders will be presented here...
  22. ncbi request reprint Membrane-permeant derivatives of mannose-1-phosphate
    Synke Rutschow
    Institut fur Organische Chemie, Universitat Hamburg, Martin Luther King Platz 6, Hamburg, Germany
    Bioorg Med Chem 10:4043-9. 2002
    ..Their enzymatic cleavages using esterase from porcine liver (E.C. 3.1.1.1) were investigated...