Cynthia Freehauf

Summary

Publications

  1. doi request reprint Impact of geographic access to care on compliance and metabolic control in phenylketonuria
    Cynthia Freehauf
    Department of Pediatrics, University of Colorado, Education 2 South, Mailstop 8400, 13121 East 17th Avenue, Aurora, CO 80045, USA
    Mol Genet Metab 108:13-7. 2013
  2. pmc Management of a patient with holocarboxylase synthetase deficiency
    Johan L K Van Hove
    Department of Pediatrics, University of Colorado at Denver, CO, USA
    Mol Genet Metab 95:201-5. 2008
  3. doi request reprint Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screening outcomes research
    Erica L Wright
    Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA
    Genet Med 12:S228-41. 2010
  4. doi request reprint Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria
    Amy K Keating
    Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA
    Mol Genet Metab 103:330-7. 2011
  5. ncbi request reprint 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

  • Nicola Longo
  • Alfonso León-Del-Río
  • Kenneth N Maclean
  • Erica L Wright
  • Johan L K Van Hove
  • Janet A Thomas
  • Amy K Keating
  • Robert H Allen
  • Gary L Brodsky
  • Sally P Stabler
  • Hua Jiang
  • Douglas K Graham
  • Iván Meneses-Morales
  • Sara Shanske
  • Shelley Miyamoto
  • Rafael Cervantes-Roldán
  • Donald M Mock
  • Georgirene D Vladutiu
  • Elaine Spector
  • Le Phuc Thuy
  • Sagi Josefsberg
  • Pei Wen Chiang
  • Bruce A Barshop
  • Eduardo Bonilla
  • Jacklyn Pancrudo
  • Michael Woontner
  • Mark A Lovell
  • Gary W Mierau

Detail Information

Publications5

  1. doi request reprint Impact of geographic access to care on compliance and metabolic control in phenylketonuria
    Cynthia Freehauf
    Department of Pediatrics, University of Colorado, Education 2 South, Mailstop 8400, 13121 East 17th Avenue, Aurora, CO 80045, USA
    Mol Genet Metab 108:13-7. 2013
    ..To study the impact of geographic access to care on metabolic control and compliance in phenylketonuria (PKU)...
  2. pmc Management of a patient with holocarboxylase synthetase deficiency
    Johan L K Van Hove
    Department of Pediatrics, University of Colorado at Denver, CO, USA
    Mol Genet Metab 95:201-5. 2008
    ..Measuring these pharmacokinetic variables can aid in optimizing treatment, as individual tailoring of dosing to the needs of the mutation may be required...
  3. doi request reprint Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screening outcomes research
    Erica L Wright
    Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA
    Genet Med 12:S228-41. 2010
    ..This article presents the rationale and design of the Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-up Study...
  4. doi request reprint Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria
    Amy K Keating
    Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA
    Mol Genet Metab 103:330-7. 2011
    ..Our findings indicate that anti-inflammatory strategies could serve as a useful adjuvant therapy for this disease...
  5. ncbi request reprint 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...