Janet A Thomas
Affiliation: University of Colorado
- Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndromeJ 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...
- Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis IJanet 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...
- Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbanceAnne 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...
- Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathyJohan 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...
- Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid geneJohan 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...