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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1958-2017
0246819582017

Papers overview

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Highly Cited
2009
Highly Cited
2009
HIV associated dementia (HAD) is the most advanced stage of central nervous system disease caused by HIV infection. Previous… (More)
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2006
2006
Cigarette smoking is a complex behavioral phenotype to which environmental, psychological and genetic factors contribute. The… (More)
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2006
2006
In atopic dermatitis, microbial allergens may be pathogenetically significant. Apart from Staphylococcus aureus, these are… (More)
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1999
1999
OBJECTIVE To investigate the association between the experimentally induced Kobner phenomenon (KP-e) and the Kobner phenomenon by… (More)
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1994
1994
A young woman presented with pellagra. Her symptoms were precipitated by prolonged lactation and increased activity. Dietary… (More)
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1987
1987
The Hartnup mutation affects an amino acid transport system of intestine and kidney used by a large group of neutral charge alpha… (More)
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1977
1977
Hartnup disease was diagnosed in 12 children and 3 of their 15 sibs in the course of routine urine screening of 6-week-old… (More)
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1976
1976
Hartnup disease is a rare genetic disorder of amino acid transport associated with variable and intermittent clinical… (More)
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1970
1970
The results of oral tolerance tests of two dipeptides and of their constitutent amino acids are compared in normal subjects and… (More)
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1970
1970
A severely affected case of Hartnup disease is reported, where the patient responded rapidly to nicotinamide. This supports the… (More)
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