Publications by authors named "Cynthia Freehauf"

10 Publications

  • Page 1 of 1

Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.

JIMD Rep 2017 9;37:55-61. Epub 2017 Mar 9.

Department of Pediatrics, University of California at San Francisco, 330 Post Street, 6th Floor, San Francisco, CA, USA.

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March 2017

Low bone mineral density is a common finding in patients with homocystinuria.

Mol Genet Metab 2016 Mar 10;117(3):351-4. Epub 2015 Dec 10.

The Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States; Perelman School of Medicine at the University of Pennsylvania, 34th and Civic Center Blvd, Pennsylvania, Philadelphia, PA 19104, United States.

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March 2016

Impact of geographic access to care on compliance and metabolic control in phenylketonuria.

Mol Genet Metab 2013 Jan 8;108(1):13-7. Epub 2012 Oct 8.

Department of Pediatrics, University of Colorado, Education 2 South, Mailstop 8400, 13121 East 17th Avenue, Aurora, CO 80045, USA.

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January 2013

Acute nutrition management in the prevention of metabolic illness: a practical approach with glucose polymers.

Mol Genet Metab 2009 May;97(1):1-3

Department of Pediatrics, University of Colorado Denver, University of Colorado Health Sciences Center at Fitzsimmons, Mail Stop 8313, PO Box 6511, BuildingRC-1 North, Room P18-4132, Aurora, CO 80045, USA.

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May 2009

Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.

Eur J Pediatr 2008 Jul 22;167(7):771-6. Epub 2007 Sep 22.

Department of Pediatrics, The University of Colorado at Denver Health Sciences Center and The Children's Hospital, Denver, CO 80045, USA.

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July 2008

Role of electron microscopy in the diagnosis of mitochondrial cytopathies.

Pediatr Dev Pathol 2004 Nov-Dec;7(6):637-40. Epub 2004 Nov 8.

Department of Pathology, The Children's Hospital, 1056 East 19th Avenue, Denver, CO 80218, USA.

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May 2005