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Matthew M. Demczko

Observed names: Matt Demczko, Matt M. Demczko, Matthew Demczko, Matthew M Demczko
Observed institutions: Clinic for Special Children, Alfred I. duPont Hospital for Children, Children's Hospital of Philadelphia, Thomas Jefferson University, Franklin & Marshall College, Shared Health, University of Pennsylvania
ORCID: 0000-0003-0232-9611
Observed ORCID: 0000-0003-0232-9611
OpenAlex ID: A5029116775
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function
2020 · Jahnavi Aluri, Alicia Bach, et al. · Blood · 106
Flexion-Extension Cervical Spine MRI in Children With Skeletal Dysplasia
2013 · William G. Mackenzie, Arjun A. Dhawale, et al. · Journal of Pediatric Orthopaedics · 48
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease
2018 · Katie B Williams, Karlla W Brigatti, et al. · Human Molecular Genetics · 33
Effectiveness and Safety of Statin Therapy in Children: A Real-World Clinical Practice Experience
2020 · Rae-Ellen W. Kavey, Cedric Manlhiot, et al. · CJC Open · 27
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A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
2023 · Vilma-Lotta Lehtokari, Lydia Sagath, et al. · Neuromuscular Disorders · 9
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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
2023 · Parith Wongkittichote, Cassandra Pantano, et al. · Molecular Genetics and Metabolism · 9
Newborn Pulse Oximetry for Infants Born Out-of-Hospital
2021 · Katie B. Williams, Michael Horst, et al. · PEDIATRICS · 5
Clinical, biochemical and molecular characterization of a new case with FDX2 ‐related mitochondrial disorder: Potential biomarkers and treatment options
2024 · Parith Wongkittichote, Cassandra Pantano, et al. · JIMD Reports · 4
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Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder
2023 · Parith Wongkittichote, Rebecca D Ganetzky, et al. · Clinical Chemistry · 3
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Craniosynostosis in a patient with Fanconi–Bickel syndrome: a case report
2022 · Matthew M. Demczko, Tullis T. Liu, et al. · Journal of Pediatric Endocrinology and Metabolism · 3
Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathway
2025 · Matthew M. Demczko, Rebecca D. Ganetzky, et al. · Molecular Genetics and Metabolism · 1
Comparison of 2 Models of Care for Children With Medical Complexity Following Spinal Fusion
2024 · Zachary Semenetz, Amanda M. Lewis, et al. · Clinical Pediatrics · 1
Partnering Through Uncertainty: A Rare Risk Reveals a Common Need
2026 · Erin Young, Gregory Young, et al. · PEDIATRICS
Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders
2026 · Laura E. MacMullen, Katelynn D. Stanley, et al. · Therapeutic Advances in Rare Disease
Characterization of mitochondrial diabetes current management practices among a large primary mitochondrial disease cohort
2026 · Herodes Guzman, Elizabeth McCormick, et al. · Molecular Genetics and Metabolism
P024: A pilot phase 2 study to assess the safety and efficacy of sirolimus in pediatric Leigh syndrome patients: Interim analysis
2026 · Matt Demczko, Marissa Weis, et al. · Genetics in Medicine Open
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Mitochondrial Disease and the Brain: Beyond the Typical Neurological Manifestations
2026 · Arianna K. Stefanatos, Cassandra Tormey, et al. · Springer eBooks
460: Novel Molecular Mechanisms and Treatment Option for Mitochondria-defective Chronic Intestinal Pseudo-obstruction
2025 · Chiara Diquigiovanni, Nicola Rizzardi, et al. · Gastroenterology
P399: Follow the family history: Neonatal diagnosis of YARSopathy and congenital CMV
2025 · Haley Crane, Lisa Pilchman, et al. · Genetics in Medicine Open
Adult-onset Leigh Syndrome: An analysis of the North American Mitochondrial Disease Consortium Database (P3-11.017)
2024 · Emanuele Barca, Adam Kroopnick, et al. · Neurology
A Wave
2019 · Matthew M. Demczko · JAMA
Abstract 14231: Effectiveness and Safety of Statin Therapy in Children: A Multi-Center, Real-World Clinical Practice Experience
2015 · Rae Ellen W Kavey, Cedric Manlhiot, et al. · Circulation
The effect of gene dosage imbalance and NFATc1 localization on endocardial cushion development in the Ts65Dn mouse model for Down syndrome
2009 · Erik M. Kelly, Matthew M. Demczko, et al. · Developmental Biology
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Works count: 23
Citation count: 249
H-index: 6
I10-index: 4
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