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Hartnup Disease

Known as: Transport Disorder, Neutral Amino Acid, H DISEASE, TRYPTOPHAN PYRROLASE DEFICIENCY 
An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal… 
National Institutes of Health

Related topics

Related topics

18 relations

Broader (2)

Amino Acid Metabolism, Inborn ErrorsRenal Aminoacidurias
Autosomal recessive inheritanceEpisodic AtaxiaGlobal developmental delayIn Blood

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2006
Highly Cited
2006
The Serum and Glucocorticoid Inducible Kinases SGK1-3 Stimulate the Neutral Amino Acid Transporter SLC6A19
The neutral amino acid transporter SLC6A19 (B⁰AT1) plays a decisive role in transport of neutral amino acids in the kidney and… 
2004
2004
Lessons About Sleepiness and Driving from the Selby Rail Disaster Case: R v Gary Neil Hart
In April 2003, near the town of Selby in North Yorkshire, England, a motor vehicle went off the road to cause a train collision… 
1995
1995
Neither Black Nor White: Asian Americans and Affirmative Action
1992
1992
Disseminated porokeratosis and myelodysplastic syndrome.
Dr. Jesus Luelmo-Aguilar, Servicio de Dermatología, Hospital General Vail d’Hebron, Pg Vail d’Hebron s/n., 08035 Barcelona (Spain… 
1976
1976
Hartnup Disease: Clinical, Pathological, and Biochemical Observations
• Hartnup disease is a rare genetic disorder of amino acid transport associated with variable and intermittent clinical… 
1967
1967
Results of a screening method for free amino acids II. Urine
1963
1963
THE ROLE OF COENZYMES, CORTISONE AND RNA IN THE CONTROL OF LIVER ENZYME LEVELS.
1963
1963
Stature and Nutrition in Cystinuria and Hartnup Disease
These investigations show that the oral administration of D(-)penicillamine can reduce or abolish the excretion of cystine in… 
Highly Cited
1960
Highly Cited
1960
The metabolic disorder in Hartnup disease.
Highly Cited
1958
Highly Cited
1958
The indole acids of human urine; paper chromatography of indole acids.
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