Acute intermittent porphyria

Known as: Acute Porphyria, porphyria acute, Intermittent Porphyria, Acute 
A genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which… (More)
National Institutes of Health

Papers overview

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Review
2015
Review
2015
Acute intermittent porphyria (AIP) is due to a deficiency of the third enzyme, the hydroxymethylbilane synthase, in heme… (More)
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Highly Cited
2012
Highly Cited
2012
BACKGROUND IgG4-related disease (IgG4-RD) is a novel clinical disease entity characterized by elevated serum IgG4 concentration… (More)
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Review
2009
Review
2009
Acute intermittent porphyria (AIP) is an inherited metabolic disease due to a deficiency of the hydroxymethylbilane synthase in… (More)
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2008
2008
Acute intermittent porphyria (AIP) is a rare metabolic disorder characterized by mutations of the porphobilinogen deaminase gene… (More)
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Highly Cited
2006
Highly Cited
2006
1 The Third Department of Internal Medicine, Kansai Medical University, Moriguchi, Japan 2 Center for Health, Safety and… (More)
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Highly Cited
2004
Highly Cited
2004
Acute intermittent porphyria occasionally causes frequent and crippling acute neurovisceral attacks associated with increased… (More)
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Review
1998
Review
1998
Acute intermittent porphyria (AIP) is transmitted as an autosomal dominant disorder with incomplete penetrance. Recent population… (More)
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Highly Cited
1996
Highly Cited
1996
Arabidopsis ecotype Columbia (Col-0) seedlings, transformed with a phenylalanine ammonia-lyase 1 promoter (PAL1)-[beta… (More)
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1989
1989
An inherited deficiency of porphobilinogen deaminase [porphobilinogen ammonia-lyase (polymerizing), EC 4.3.1.8] in humans is… (More)
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1985
1985
Autonomic function was assessed in subjects with acute intermittent porphyria and age- and sex-matched controls using five… (More)
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