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Last Updated: 10/31/2025
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Found 288 publications
Dermatology-Related Disorders Named After Patients.
Journal: Clinics in dermatology
Published: September 19, 2025
Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control.
Journal: Frontiers in cell and developmental biology
Published: March 07, 2025
Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case Report.
Journal: Neurology. Genetics
Published: March 04, 2024
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: December 29, 2022
New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19.
Journal: IBRO neuroscience reports
Published: December 03, 2022
Screening and identification of differential metabolites in serum and urine of bamaxiang pigs bitten by trimeresurus stejnegeri based on UPLC-Q-TOF/MS metabolomics technology.
Journal: The Journal of toxicological sciences
Published: September 14, 2022
Systemic tryptophan homeostasis.
Journal: Frontiers in molecular biosciences
Published: March 16, 2022
Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.
Journal: American journal of medical genetics. Part A
Published: May 17, 2021
Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.
Journal: Frontiers in neuroscience
Published: February 27, 2021
ACE2 and gut amino acid transport.
Journal: Clinical science (London, England : 1979)
Published: August 30, 2020
COVID-19 and Hartnup disease: an affair of intestinal amino acid malabsorption.
Journal: Eating and weight disorders : EWD
Published: June 13, 2020
Last Updated: 10/31/2025