Matthew M Demczko, MD

faculty photo
Assistant Professor of Clinical Pediatrics (Human Genetics)
Education and Fellowship Director, Mitochondrial Medicine, Division of Human Genetics
Faculty Member, Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia
Inpatient Service Director, Mitochondrial Medicine, Division of Human Genetics
Attending Physician, Division of Human Genetics, Mitochondrial Medicine, Children's Hospital of Philadelphia
Department: Pediatrics

Contact information
Children's Hospital of Philadelphia
Division of Genetics
3401 Civic Center Blvd.
Philadelphia, PA 19104
Education:
B.A. (Biology and Religious Studies)
Franklin & Marshall College, 2008.
M.D.
Sidney Kimmel Medical College, Thomas Jefferson University, 2012.
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Selected Publications

Barca E, Kroopnick A, Houck A, Thakur K, Dugue R, Zolkipli-Cunningham Z, Falk MJ, Goldstein A, Demczko MM, Gavrilova R, Larson A, Van Hove J, Saneto R, Buchsbaum R, Thompson J, Hirano M: Adult-Onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database. Accepted for presentation at the American Academy of Neurology Meeting 2024 Notes: Poster presentation.

Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C.: A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy. Neuromuscul Disord. 34: 32-40, Nov 2023 Notes: doi: 10.1016/j.nmd.2023.11.009. Epub ahead of print.

Wongkittichote P, Pantano C, Bogush E, Alves CAP, Hong X, He M, Demczko MM, Ganetzky RD, Goldstein A: Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers. Mol Genet Metab 140(1-2): 107710, Sept-Oct 2023 Notes: doi: 10.1016/j.ymgme.2023.107710. Epub 2023 Oct 20.

Lehtokari VL, Sagath L, Davis M, Ho D, Kettunen K, Kiiski K, Demczko MM, Krcho P, Stein R, Shohet A, Orenstein N, Udd B, Laing N, Pelin K, Wallgren-Pettersson C: A recurrent ACTA1 amino acid change – mosaic form causes milder asymmetric myopathy. Presented at the European Human Genetics Conference 2023 Notes: Poster presentation.

Demczko M.M: Inherited Disorders of Metabolism. Merck Manuals. Professional and Consumer Editions 2023.

Pantano C, Demczko MM, Ganetzky R, Goldstein A: Implementing the CHOP Mito Care Pathway to deliver clinical care in the inpatient setting. Presented at the United Mitochondrial Disease Foundation Meeting 2023 Notes: Poster presentation.

Semenetz Z, Lewis AM, Arasteh K, Liu T, Demczko MM: Comparison of Two Different Models of Inpatient Care for Medically Complex Children After Spinal Fusion Surgery. Pediatric Academic Societies 2023 Meeting 2023 Notes: Poster.

Wongkittichote P, Ganetzky RD, Demczko MM, Hong X, He M, Master SR: Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder. Clinical Chemistry 69(6), 661-664 2023 Notes: doi: 10.1093/clinchem/hvad039.

Demczko MM, Liu TT, Napoli JA.: Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report. Journal of Pediatric Endocrinology and Metabolism 35: 1201-1205, Jul 2022.

Goldstein A, Ganetzky R, Demczko MM, Pantano C, Zolkipli-Cunningham Z, Sharma S, Falk MJ: Improving Acute Care for Mitochondrial Disease: Development of an Inpatient Clinical Care Pathway. Presented at the United Mitochondrial Disease Foundation Meeting 2022. Poster presentation 2022.

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Last updated: 01/17/2024
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