Elsebet Ostergaard

Summary

Affiliation: Copenhagen University Hospital
Country: Denmark

Publications

  1. ncbi request reprint Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
    Brain 130:853-61. 2007
  2. pmc Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
    Elsebet Ostergaard
    Department of Clinical Genetics, National University Hospital Rigshospitalet, Copenhagen, Denmark
    Am J Hum Genet 81:383-7. 2007
  3. doi request reprint A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
    Elsebet Ostergaard
    Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
    Eur J Pediatr 169:201-5. 2010
  4. doi request reprint Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency
    E Ostergaard
    Department of Clinical Genetics 4062, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, 2100, Denmark
    J Inherit Metab Dis 32:S235-9. 2009
  5. doi request reprint Disorders caused by deficiency of succinate-CoA ligase
    E Ostergaard
    Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Copenhagen, Denmark
    J Inherit Metab Dis 31:226-9. 2008
  6. doi request reprint Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
    J Med Genet 48:737-40. 2011
  7. doi request reprint A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Denmark
    Acta Paediatr 101:e509-13. 2012
  8. pmc A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases
    Elsebet Ostergaard
    Department of Clinical Genetics 4062, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
    Mol Vis 17:1485-92. 2011
  9. pmc Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark
    JIMD Rep 9:1-5. 2013
  10. ncbi request reprint Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes
    Sabine Duchatelet
    Genetics of Infectious and Autoimmune Diseases, Pasteur Institute, INSERM E102, Paris, France
    Hum Mol Genet 14:1-5. 2005

Detail Information

Publications10

  1. ncbi request reprint Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
    Brain 130:853-61. 2007
    ....
  2. pmc Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
    Elsebet Ostergaard
    Department of Clinical Genetics, National University Hospital Rigshospitalet, Copenhagen, Denmark
    Am J Hum Genet 81:383-7. 2007
    ..The mtDNA depletion is likely explained by decreased mitochondrial nucleoside diphosphate kinase (NDPK) activity resulting from the inability of NDPK to form a complex with SUCL...
  3. doi request reprint A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
    Elsebet Ostergaard
    Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
    Eur J Pediatr 169:201-5. 2010
    ..We here report a patient with a novel homozygous missense mutation in SUCLG1, whose phenotype is similar to that of patients with SUCLA2 mutations...
  4. doi request reprint Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency
    E Ostergaard
    Department of Clinical Genetics 4062, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, 2100, Denmark
    J Inherit Metab Dis 32:S235-9. 2009
    ..The four patients reported here all belong to the latter group, which is the largest...
  5. doi request reprint Disorders caused by deficiency of succinate-CoA ligase
    E Ostergaard
    Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Copenhagen, Denmark
    J Inherit Metab Dis 31:226-9. 2008
    ..The mtDNA depletion may be explained by the interaction of succinate-CoA ligase with nucleoside diphosphate kinase, which is involved in mitochondrial nucleotide metabolism...
  6. doi request reprint Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
    J Med Genet 48:737-40. 2011
    ..Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed basal ganglia lesions typical of Leigh syndrome...
  7. doi request reprint A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Denmark
    Acta Paediatr 101:e509-13. 2012
    ..The aim of the study was to identify the genetic background for Aicardi-Goutieres syndrome (AGS) in the Faroe Islands...
  8. pmc A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases
    Elsebet Ostergaard
    Department of Clinical Genetics 4062, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
    Mol Vis 17:1485-92. 2011
    ..The aim of the study was to elucidate the genetic background of retinitis pigmentosa (RP) in a Faroe Islands population, a genetic isolate in the North Atlantic Ocean...
  9. pmc Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency
    Elsebet Ostergaard
    Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark
    JIMD Rep 9:1-5. 2013
    ..There is thus no evidence for recurrent mutations in the Turkish or other populations...
  10. ncbi request reprint Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes
    Sabine Duchatelet
    Genetics of Infectious and Autoimmune Diseases, Pasteur Institute, INSERM E102, Paris, France
    Hum Mol Genet 14:1-5. 2005
    ..To our knowledge, this is the first description of opposite manifestations resulting from distinct recessive mutations in the same gene...