Hartnup Disease Latest Advances

Find the Latest Research About Hartnup Disease

Last Updated: 02/24/2026

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Found 290 publications

Dermatology-related disorders named after patients.

Dermatology-related disorders named after patients.

Journal: Clinics in dermatology
Published: October 25, 2025

Dermatology-related disorders named after patients.

Dermatology-related disorders named after patients.

Journal: Clinics in dermatology
Published: September 19, 2025

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.

Journal: Current research in physiology
Published: July 05, 2025

Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control.

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.

Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case Report.

Journal: Neurology. Genetics
Published: March 04, 2024

The SLC6A15-SLC6A20 Neutral Amino Acid Transporter Subfamily: Functions, Diseases, and Their Therapeutic Relevance.

The SLC6A15-SLC6A20 Neutral Amino Acid Transporter Subfamily: Functions, Diseases, and Their Therapeutic Relevance.

Journal: Pharmacological reviews
Published: March 23, 2023

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.

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.

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.

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.

Systemic tryptophan homeostasis.

Journal: Frontiers in molecular biosciences
Published: March 16, 2022

Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.

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.

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention.

Journal: Frontiers in neuroscience
Published: February 27, 2021
Showing 1-12 of 290

Last Updated: 02/24/2026