Preeya Rehsi
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 10 publications
Neuroimaging in cerebral folate deficiencies.
Journal: Pediatric radiology
Published: October 14, 2025
Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients.
Journal: Journal of inherited metabolic disease
Published: July 06, 2025
A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain Features.
Journal: JIMD reports
Published: March 26, 2025
Single centre retrospective review of plasma branched-chain amino acid levels in children with urea cycle disorders: Impact of treatment modalities and disease severity.
Journal: Molecular genetics and metabolism reports
Published: September 24, 2024
Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarker.
Journal: JIMD reports
Published: February 11, 2024
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Journal: Molecular genetics and metabolism
Published: June 14, 2023
SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.
Journal: Frontiers in genetics
Published: July 06, 2021
Showing 1-10 of 10
Last Updated: 09/26/2026