Genomes and Genes
- Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type IaThorsten 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...
- A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancyChristian 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...
- 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...
- Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapiesT 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...
- 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....
- Leukocyte adhesion deficiency II: therapy and genetic defectMartin 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...
- 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...
- Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolismFrank 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...
- Kocuria rhizophila adds to the emerging spectrum of micrococcal species involved in human infectionsKarsten 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...
- 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...
- 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 HGPSJonas 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...
- Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteinsJonas 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...
- Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporterYvonne 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....
- Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase IChristian Kranz
Klinik und Poliklinik für Kinderheilkunde, Muenster, Germany
Am J Hum Genet 74:545-51. 2004....
- 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 glycosylationDijana Sagi
Institute for Medical Physics and Biophysics, University of Munster, Munster, Germany
Proteomics 5:2689-701. 2005....
- Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutationLuitgard 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...
- Cardiomyopathy in congenital disorders of glycosylationJosef 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...
- A COG in the sugar machineThorsten Marquardt
Nat Med 10:457-8. 2004
- 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 metabolismJeannette Gootjes
Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands
Hum Mutat 24:130-9. 2004....
- p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeriaJanbernd Kirschner
Division of Neuropediatrics and Muscle Disorders, University Children s Hospital Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany
Ann Neurol 57:148-51. 2005....
- 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 disordersThomas 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...
- Membrane-permeant derivatives of mannose-1-phosphateSynke 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. 18.104.22.168) were investigated...