Last Updated: 09/26/2026
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Found 42 publications
Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study.
Journal: Molecular genetics and metabolism reports
Published: September 27, 2023
Pangenome graphs improve the analysis of structural variants in rare genetic diseases.
Journal: Nature communications
Published: June 06, 2023
Untargeted Metabolomic Analysis of Sjögren-Larsson Syndrome Reveals a Distinctive Pattern of Multiple Disrupted Biochemical Pathways.
Journal: Metabolites
Published: March 24, 2023
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Journal: Nature communications
Published: September 19, 2022
Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.
Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.
Journal: International journal of neonatal screening
Published: March 08, 2022
Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.
Journal: Journal of child neurology
Published: August 31, 2021
A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome.
Journal: Journal of child neurology
Published: July 28, 2021
Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents.
Journal: Molecular genetics and metabolism reports
Published: July 09, 2021
Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
Journal: Human mutation
Published: March 09, 2021
Zellweger spectrum disorder: A cross-sectional study of symptom prevalence using input from family caregivers.
Journal: Molecular genetics and metabolism reports
Published: November 27, 2020
Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations.
Journal: Paediatric anaesthesia
Published: June 18, 2020
Last Updated: 09/26/2026