Heather Bausell, RD, LDN

Research

• Use of glycomacropeptide (GMP) and sapropterin for the treatment of maternal PKU patients Palynziq (60mg dose) for the treatment of PKU
• Gene therapy for the treatment of PKU
• Triheptanoin (C7 oil) used for the treatment of long chain fatty acid oxidation disorders

Publications:

• Palynziq for Adults with PKU- GMDI Newsletter March 2019
• Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria, Genetics in Medicine December 2018
• Strategies for Successful Long-term Engagement of Adults with Phenylalanine Hydroxylase Deficiency Returning to the Clinic, Journal of Inborn Errors of Metabolism and Screening, Fall 2017
• Making the Decision about a Gastrostomy Tube (G-Tube). MSUD Newsletter, Summer/Fall 2015
• Practical Aspects of Recruitment and Retention in Clinical Trials of Rare Genetic Diseases the Phenylketonuria (PKU) Experience. Journal of Genetic Counseling, 9/2013
• Recommendations for the use of sapropterin in phenylketonuria. Molecular Genetics and Metabolism, 7/2012
• A new approach to re-engage adults through PKU boot camp. National PKU News, Fall 2011My PKU Binder, from Diagnosis to Adulthood, NPKUA, 8/2011
• Tetrahydrobiopterin therapy for phenylketonuria in infants and young children. The Journal of Pediatrics, 09/2010
• Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU). Molecular Genetics and Metabolism, 10/2010

Abstracts:

• Pegvaliase Treatment Protocol and Patient Outcomes Experience of a Single PKU Treatment Center March 2019
• Elicitation of Health State Utility Values in Phenylketonuria from a Modified Delphi Panel, March 2019
• Exploring the Transition to Self-Care in Adolescents with Phenylketonuria, July 2018
• Sapropterin dihydrochloride as sole treatment in patients with mild-variant Phenylketonuria, April 2018
• Intravenous Sources of Medium Chain Triglycerides for Critically Ill Patients with Fatty Acid Oxidation Disorders, April 2018, September 2017
• Review of Maternal Phenylketonuria Treatment Methods including Sapropterin and Glycomacropeptide, 2016
• Boot Camp for Adults with Phenylketonuria (PKU): An Interdisciplinary Approach to Re-Engaging Adult Patients to Improve Metabolic Control, 2012
• Comparison of Phenylketonuria (PKU) Patients’ Height, Weight and Body Mass Index (BMI) to the General Population, 2012
• Treatment with Sapropterin Results in Increased Stability of Blood Phenylalanine (Phe) Levels in BH4-Responsive Patients with Phenylketonuria (PKU), 2010
• High Incidence of Osteopenia and Vitamin D Deficiency in Patients with Phenylketonuria (PKU), 2010
• Preliminary Analysis of Safety Data from the Sapropterin Expanded Access program for PKU, 2008
• Identification of Sapropterin Responsive Phenylketonuria Patients in a Single PKU Clinic During an Expanded Access Program, 2008
• Responsiveness to Sapropterin Dihydrochloride Therapy in Children with Classical Phenylketonuria, 2008