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Article

Contribution of Mendelian Disorders in a Population-Based Pediatric Neurodegeneration Cohort.

The Journal of pediatrics - 1 Sept 2022

Guo Rose, Mentch Frank D, Li Dong, Will Erin E, Ahrens-Nicklas Rebecca C, Bhoj Elizabeth J

Abstract excerpt

OBJECTIVE: To evaluate Mendelian causes of neurodegenerative disorders in a cohort of pediatric patients. STUDY DESIGN: Patients enrolled in the Center for Applied Genomics Biobank at the Children's Hospital of Philadelphia with neurodegenerative symptoms were identified using an algorithm that consisted of including and excluding selected International Classification of Diseases, 9th and 10th edition codes. A...

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Algorithms
Child
Cohort Studies
Hospitals, Pediatric
Neuronal Ceroid-Lipofuscinoses

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PMID: 35577121
DOI: 10.1016/j.jpeds.2022.05.017

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