Last Updated: 09/26/2026
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Found 7 publications
Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling.
Journal: International journal of neonatal screening
Published: June 26, 2026
Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction.
Journal: Molecular genetics and metabolism
Published: August 29, 2024
Case report: A novel biallelic FTO variant causing multisystem anomalies with severe epilepsy, widening the spectrum of FTO syndrome.
Journal: SAGE open medical case reports
Published: April 01, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Journal: medRxiv : the preprint server for health sciences
Published: March 03, 2023
Fatal cerebral infarct in a child with COVID-19.
Journal: Pediatric radiology
Published: June 01, 2020
Diagnosis and Supportive Management of Fucosidosis: A Case Report.
Journal: Cureus
Published: December 31, 2019
Epilepsy surgery in patients with autism.
Journal: Journal of neurosurgery. Pediatrics
Published: November 26, 2016
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Last Updated: 09/26/2026