Disease: Hartnup disease
- A candidate mouse model for Hartnup disorder deficient in neutral amino acid transport
- A case of Hartnup disease
- A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease
- A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder
- A protein complex in the brush-border membrane explains a Hartnup disorder allele
- ACE2 - from the renin-angiotensin system to gut microbiota and malnutrition
- ACE2 and gut amino acid transport
- Acrodermatitis enteropathica-like eruptions in a child with Hartnup disease
- Adult-onset Hartnup disease presenting with neuropsychiatric symptoms but without skin lesions
- Amino acid absorption and homeostasis in mice lacking the intestinal peptide transporter PEPT1
- Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases
- Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin
- Angiotensin-converting enzyme 2 (ACE2) in disease pathogenesis
- Apical transporters for neutral amino acids: physiology and pathophysiology
- Association of celiac disease and Hartnup's disease? Value of the tryptophan loading test
- Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study
- Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia
- Ataxia
- Biochemical phenotyping of multiple myeloma patients at diagnosis reveals a disorder of mitochondrial complexes I and II and a Hartnup-like disturbance as underlying conditions, also influencing different stages of the disease
- Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester
- Clinical picture of Hartnup disease. Without urine amino acids or any other identified metabolic disorder (a new entity)
- Clinical studies of pediatric malabsorption syndromes
- Collectrin and ACE2 in renal and intestinal amino acid transport
- Complementation analysis demonstrates that insulin cross-links both alpha subunits in a truncated insulin receptor dimer
- COVID-19 and Hartnup disease: an affair of intestinal amino acid malabsorption
- Disorders of renal tubular transport of amino acids, hexose and phosphate
- Dynamic study of plasma and urine amino acid patterns after an oral load of tryptophan. Application to a patient with a complex deficiency syndrome
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches
- Further evidence for allelic heterogeneity in Hartnup disorder
- Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse
- Hartnup disease
- Hartnup disease
- Hartnup disease
- Hartnup Disease
- Hartnup Disease
- Hartnup disease (report of 2 cases in one family)
- Hartnup disease is related to a mutation in the SL C6A19 gene coding for the B degrees AT1 aminoacid transporter
- Hartnup disease masked by kwashiorkor
- Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy
- Hartnup disease presenting in an adult
- Hartnup disease: MR findings
- Hartnup disorder
- Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19
- Hartnup disorder: Pathogenesis, pathophysiology, and therapy
- Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5
- Hartnup disorder: unraveling the mystery
- Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study
- Hartnup syndrome. A rare metabolic disease
- Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder
- Identification and Characterization of Inhibitors of a Neutral Amino Acid Transporter, SLC6A19, Using Two Functional Cell-Based Assays
- Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse
- Inborn errors of metabolism
- Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention
- Indicanuria
- Influenza vaccination strategies for 2020-21 in the context of COVID-19
- Inherited amino acid transport disorders
- Intermittent dystonia in Hartnup disease
- Julius Caesar and the Julian emperors. A family cluster with Hartnup disease?
- Kidney tubular amino acid transport disorders
- Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease
- Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia
- Maternal Hartnup disorder
- Metabolic correlates of learning disability
- Metabolic diseases and the skin
- Metabolic syndromes with dermatologic manifestations
- Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder
- MR imaging of the lungs with hyperpolarized helium-3 gas transported by air
- Multiple functions of angiotensin-converting enzyme 2 and its relevance in cardiovascular diseases
- Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
- Natural disordered sequences in the amino terminal domain of nuclear receptors: lessons from the androgen and glucocorticoid receptors
- Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder
- New aspects for the brain in Hartnup disease based on mining of high-resolution cellular mRNA expression data for SLC6A19
- Nicotinic acid and nicotinamide
- Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder
- Nutrient-gene interactions: the gene is not the disease and vice versa
- Occurrences of methylmalonic aciduria and Hartnup disorder in the same family
- Pellagra a review exploring causes and mechanisms, including isoniazid-induced pellagra
- Persistence of the common Hartnup disease D173N allele in populations of European origin
- Photosensitivity and photodermatitis in childhood
- Photosensitivity in infants and children
- Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease
- Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules
- Rare mutations associating with serum creatinine and chronic kidney disease
- Renal tubule transport defect of amino acids
- SARS-CoV-2 Infectivity and Neurological Targets in the Brain
- 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
- Severe exfoliative erythema of malnutrition in a child with coexisting coeliac and Hartnup's disease
- Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease
- Spontaneous scalp arteriovenous fistula in a child with hartnup disease
- Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in <em>SLC6A19</em>
- Study of Seizure-Manifested Hartnup Disorder Case Induced By Novel Mutations in SLC6A19
- Systemic tryptophan homeostasis
- The current concepts on the absorption of monosaccharides, amino acids and peptides in the mammalian small intestine
- The Hartnup phenotype: Mendelian transport disorder, multifactorial disease
- The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition
- Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations
- Toward a more rational field-genetic epidemiology
- Treatment of Hartnup disease with nicotinic acid
- Tryptophan and its metabolites in a family with Hartnup disease
- Use of ethyl esters of tryptophan to bypass the absorption defect in Hartnup disease