Publications by authors named "Matthew Demczko"

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Improving acute care for Primary Mitochondrial Disease: Development of a publicly available clinical care pathway.
Matthew M Demczko, Rebecca D Ganetzky, Cassandra Tormey, Brandon C Ku, Bridget Blowey

Mol Genet Metab· April 2025

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Comparison of 2 Models of Care for Children With Medical Complexity Following Spinal Fusion.
Zachary Semenetz, Amanda M Lewis, Kamyar Arasteh, Tullis Liu, Matthew Demczko

Clin Pediatr (Phila)· November 2024

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Clinical, biochemical and molecular characterization of a new case with -related mitochondrial disorder: Potential biomarkers and treatment options.
Parith Wongkittichote, Cassandra Pantano, Miao He, Xinying Hong, Matthew M Demczko

JIMD Rep· March 2024

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A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Vilma-Lotta Lehtokari, Lydia Sagath, Mark Davis, Desiree Ho, Kirsi Kiiski, Matthew Demczko

Neuromuscul Disord· January 2024

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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.
Parith Wongkittichote, Cassandra Pantano, Emily Bogush, Cesar Augusto P Alves, Xinying Hong, Matthew M Demczko

Mol Genet Metab· November 2023

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Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder.
Parith Wongkittichote, Rebecca D Ganetzky, Matthew M Demczko, Xinying Hong, Miao He

Clin Chem· June 2023

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Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report.
Matthew M Demczko, Tullis T Liu, Joseph A Napoli

J Pediatr Endocrinol Metab· September 2022

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Newborn Pulse Oximetry for Infants Born Out-of-Hospital.
Katie B Williams, Michael Horst, Erika A Hollinger, Jacob Freedman, Matthew M Demczko

Pediatrics· October 2021

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Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Jahnavi Aluri, Alicia Bach, Saara Kaviany, Luana Chiquetto Paracatu, Maleewan Kitcharoensakkul, Matthew M Demczko

Blood· May 2021

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Effectiveness and Safety of Statin Therapy in Children: A Real-World Clinical Practice Experience.
Rae-Ellen W Kavey, Cedric Manlhiot, Kyle Runeckles, Tanveer Collins, Samuel S Gidding, Matthew Demczko

CJC Open· November 2020

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A Wave.
Matthew M Demczko

JAMA· September 2019

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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease.
Katie B Williams, Karlla W Brigatti, Erik G Puffenberger, Claudia Gonzaga-Jauregui, Laurie B Griffin, Matthew M Demczko

Hum Mol Genet· February 2019

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Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?
William G Mackenzie, Arjun A Dhawale, Matthew M Demczko, Colleen Ditro, Kenneth J Rogers

J Pediatr Orthop· January 2013

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