Janet A Thomas

Summary

Affiliation: University of Colorado
Country: USA

Publications

  1. ncbi Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome
    J A Thomas
    Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and the Children s Hospital, Denver, Colorado, USA
    J Inherit Metab Dis 29:762. 2006
  2. ncbi Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
    Janet A Thomas
    University of Colorado, Denver, CO, USA
    J Inherit Metab Dis 33:421-7. 2010
  3. ncbi Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
    Anne Chun Hui Tsai
    Division of Clinical Genetics and Metabolism, The Children s Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA
    Am J Med Genet A 143:2430-4. 2007
  4. ncbi Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy
    Johan L K Van Hove
    Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA
    Pediatr Res 68:159-64. 2010
  5. ncbi Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene
    Johan L K Van Hove
    Department of Pediatrics, The University of Colorado at Denver Health Sciences Center and The Children s Hospital, Denver, CO 80045, USA
    Eur J Pediatr 167:771-6. 2008

Collaborators

Detail Information

Publications5

  1. ncbi Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome
    J A Thomas
    Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and the Children s Hospital, Denver, Colorado, USA
    J Inherit Metab Dis 29:762. 2006
    ..Overall, the benefit of ERT with laronidase in advanced Hurler syndrome appeared to be minimal in this patient...
  2. ncbi Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
    Janet A Thomas
    University of Colorado, Denver, CO, USA
    J Inherit Metab Dis 33:421-7. 2010
    ..Given the availability of etiologic treatment, prompt diagnosis is important...
  3. ncbi Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
    Anne Chun Hui Tsai
    Division of Clinical Genetics and Metabolism, The Children s Hospital, University of Colorado School of Medicine, Denver, Colorado 80218, USA
    Am J Med Genet A 143:2430-4. 2007
    ..The authors would like to emphasize the recognition of a neuropsychiatric presentation in late onset cblC. Ten other reported late onset cases with similar presentations are also reviewed...
  4. ncbi Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy
    Johan L K Van Hove
    Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA
    Pediatr Res 68:159-64. 2010
    ..Succinyl-CoA ligase deficiency due to an SUCLG1 mutation is a new cause for mitochondrial hepatoencephalomyopathy...
  5. ncbi Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene
    Johan L K Van Hove
    Department of Pediatrics, The University of Colorado at Denver Health Sciences Center and The Children s Hospital, Denver, CO 80045, USA
    Eur J Pediatr 167:771-6. 2008
    ..Families with this mitochondrial DNA mutation should be aware that increased mutant load in a subsequent generation may result in severe and often fatal cardiac symptoms...