Colorado PROFILES, The Colorado Clinical and Translational Sciences Institute (CCTSI)
Keywords
Last Name
Institution

Contact Us
If you have any questions or feedback please contact us.

Cynthia L. Freehauf

TitleAssociate Professor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS
Phone303/724-2342

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    List All   |   Timeline
    1. Stabler SP, Freehauf C, Allen RH, Thomas J, Gallagher R. Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy. JIMD Rep. 2017 Mar 09. PMID: 28275971.
      View in: PubMed
    2. Weber DR, Coughlin C, Brodsky JL, Lindstrom K, Ficicioglu C, Kaplan P, Freehauf CL, Levine MA. Low bone mineral density is a common finding in patients with homocystinuria. Mol Genet Metab. 2016 Mar; 117(3):351-4. PMID: 26689745.
      View in: PubMed
    3. Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet J Rare Dis. 2015 Aug 20; 10:99. PMID: 26289392.
      View in: PubMed
    4. Freehauf C, Van Hove JL, Gao D, Bernstein L, Thomas JA. Impact of geographic access to care on compliance and metabolic control in phenylketonuria. Mol Genet Metab. 2013 Jan; 108(1):13-7. PMID: 23177662.
      View in: PubMed
    5. Keating AK, Freehauf C, Jiang H, Brodsky GL, Stabler SP, Allen RH, Graham DK, Thomas JA, Van Hove JL, Maclean KN. Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria. Mol Genet Metab. 2011 Aug; 103(4):330-7. PMID: 21601502.
      View in: PubMed
    6. Van Hove JL, Myers S, Kerckhove KV, Freehauf C, Bernstein L. Acute nutrition management in the prevention of metabolic illness: a practical approach with glucose polymers. Mol Genet Metab. 2009 May; 97(1):1-3. PMID: 19367873.
      View in: PubMed
    7. Van Hove JL, Josefsberg S, Freehauf C, Thomas JA, Thuy le P, Barshop BA, Woontner M, Mock DM, Chiang PW, Spector E, Meneses-Morales I, Cervantes-Roldán R, León-Del-Río A. Management of a patient with holocarboxylase synthetase deficiency. Mol Genet Metab. 2008 Dec; 95(4):201-5. PMID: 18974016.
      View in: PubMed
    8. Van Hove JL, Freehauf C, Miyamoto S, Vladutiu GD, Pancrudo J, Bonilla E, Lovell MA, Mierau GW, Thomas JA, Shanske S. Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene. Eur J Pediatr. 2008 Jul; 167(7):771-6. PMID: 17891417.
      View in: PubMed
    9. Mierau GW, Tyson RW, Freehauf CL. Role of electron microscopy in the diagnosis of mitochondrial cytopathies. Pediatr Dev Pathol. 2004 Nov-Dec; 7(6):637-40. PMID: 15630535.
      View in: PubMed
    10. Al-Owain M, Freehauf C, Bernstein L, Kappy M, Thomas J. Growth hormone deficiency associated with methylmalonic acidemia. J Pediatr Endocrinol Metab. 2004 Feb; 17(2):239-43. PMID: 15055362.
      View in: PubMed
    11. Wolf B, Freehauf CL, Thomas JA, Gordon PL, Greene CL, Ward JC. Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia. J Inherit Metab Dis. 2003; 26(8):805-9. PMID: 14739685.
      View in: PubMed
    12. Chamberlin ME, Ubagai T, Mudd SH, Thomas J, Pao VY, Nguyen TK, Levy HL, Greene C, Freehauf C, Chou JY. Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. Am J Hum Genet. 2000 Feb; 66(2):347-55. PMID: 10677294.
      View in: PubMed
    13. Sujansky E, Smith AC, Prescott KE, Freehauf CL, Clericuzio C, Robinson A. Natural history of the recombinant (8) syndrome. Am J Med Genet. 1993 Sep 15; 47(4):512-25. PMID: 8256815.
      View in: PubMed
    14. Freehauf CL, Lezotte D, Goodman SI, McCabe ER. Carrier screening for phenylketonuria: comparison of two discriminant analysis procedures. Am J Hum Genet. 1984 Nov; 36(6):1180-9. PMID: 6517048.
      View in: PubMed
    Freehauf's Networks
    Click the "See All" links for more information and interactive visualizations!
    Concepts Expand Description
    _
    Co-Authors Expand Description
    _
    Similar People Expand Description
    _
    Same Department Expand Description
    Physical Neighbors Expand Description
    _

    Copyright © 2017 The Regents of the University of Colorado, a body corporate. All rights reserved. (Harvard PROFILES RNS software version: 2.10.0)