Associated Papers
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X et al.
American Journal of Human Genetics, 2024
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
Haijes HA et al.
Molecular Genetics and Metabolism Reports, 2020
Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19.
Zhu Y et al.
Open Life Sciences, 2018
Rare mutations associating with serum creatinine and chronic kidney disease.
Sveinbjornsson G et al.
Human Molecular Genetics, 2014
A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder.
Zheng Y et al.
International Journal of Dermatology, 2009
The molecular basis of neutral aminoacidurias.
Bröer A et al.
Pflugers Archiv : European Journal of Physiology, 2006
Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder.
Bröer S et al.
Biochemical Society Transactions, 2005
Hartnup disorder: unraveling the mystery.
Kraut JA et al.
Trends in Pharmacological Sciences, 2005
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