Monica Boyer, Nurse Practitioner

Monica received her master’s degree as a Pediatric Nurse Practitioner from California State University, Long Beach and she is certified through the Pediatric Nursing Certification Board. She has worked in the field of nursing for over 30 years and as a Metabolic Nurse Practitioner with the CHOC Children’s Specialist Division of Metabolic Disorders for 15 years.

Special interests include the treatment of Pyridoxine Dependent Epilepsy, Ethylmalonic Encephalopathy and Glycogen Storage Disorders.

Monica is a member of the Association for Glycogen Storage Disease’s (AGSD) scientific advisory board and a co-investigator for two industry sponsored studies for GSD type 1a; the DTX401 AAV8 gene therapy trial and the BEAM-301 base editing trial.

Location

CHOC Specialty Care Clinic
1201 W. La Veta Ave.
Orange, CA 92868

Credentials

• Certified Pediatric Nurse Practitioner (CPNP)
• Registered Nurse (RN)
• Basic Life Support (BLS)
• Pediatric Advanced Life Support (PALS)

Recent Publications:

1. Coughlin, Curtis R., et al. “Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency.” Journal of inherited metabolic disease 44.1 (2021): 178-192.

2. Tseng, Laura A., et al. “Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.” Molecular Genetics and Metabolism 135.4 (2022): 350-356.

3. Boyer, M. A., et al. “Riboflavin deficiency due to vitamin shortage in neonates with parenteral nutrition dependence.” Molecular Genetics and Metabolism (2022): S1096-7192.

4. Boyer, Monica, et al. “Continuation of pegvaliase treatment during pregnancy: a case report.” Molecular Genetics and Metabolism Reports 26 (2021): 100713.

5. Grünert, S.C., Derks, T.G., Adrian, K., Al-Thihli, K., Ballhausen, D., Bidiuk, J., Bordugo, A., Boyer, M., Bratkovic, D., Brunner-Krainz, M. and Burlina, A., 2022. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire. Genetics in medicine, 24(8), pp.1781-1788.

6. Grünert, S. C., Gautschi, M., Baker, J., Boyer, M., Burlina, A., Casswall, T., … & Wortmann, S. B. (2024). Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b. Molecular genetics and metabolism, 142(2), 108486.

7. Bier, Caide, Kaelin Dickey, Brittan Bibb, Angela Crutcher, Rebecca Sponberg, Richard Chang, Monica Boyer et al. “Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females.” Molecular genetics and metabolism 141, no. 3 (2024): 108152.

8. Sowa, M.; Boyer, M.; Green, J.; Pendyal, S.; Saavedra, H. Nutrition Management in Children Less than 5 Years of Age with Glycogen Storage Disease Type I: Survey Results. Nutrients 2024, 16, 3244. https://doi.org/10.3390/nu16193244