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A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family

open access: gold, 2018
Yi Ren   +9 more
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Acute intermittent porphyria in siblings: a case report

open access: gold
Lucas Gonçalves Coelho   +9 more
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Acute Intermittent Porphyria

Seminars in Liver Disease, 1998
Acute intermittent porphyria (AIP) is transmitted as an autosomal dominant disorder with incomplete penetrance. Recent population studies suggest that the prevalence of asymptomatic heterozygotes for a mutant AIP gene may be in the range of 1 in 2,000. Clinical manifestations include abdominal pain and neurological dysfunctions.
G, PERRINE, J H, LELAND
  +7 more sources

Acute intermittent porphyria

Best Practice & Research Clinical Gastroenterology, 2005
Acute intermittent porphyria (AIP) is characterised by neurovisceral crises the most common clinical presentation of which is abdominal pain. It is an autosomal dominant condition with incomplete penetrance and is potentially life-threatening. The key point in management is to suspect and confirm the diagnosis as early as possible in order to treat the
Herrick, Ariane L., McColl, Kenneth E L
openaire   +2 more sources

Acute Intermittent Porphyria

Journal of Child Neurology, 2011
Acute intermittent porphyria is a metabolic disorder rarely seen in prepubertal children. A delay in diagnosis of acute intermittent porphyria is common because of variable and nonspecific symptoms. We report an 8-year-old boy with right hemimegalencephaly and intractable seizures, who presented with dark-colored urine, hypertension, increasing ...
Elizabeth, Anyaegbu   +5 more
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Acute intermittent porphyria in pregnancy

International Journal of Gynecology & Obstetrics, 1989
A 27-year-old, previously healthy normotensive woman was admitted for hyperemesis gravidarum and treated with intravenous fluids and metoclopramide. Thereafter, a neuropsychiatric syndrome developed, with acute asymmetrical axonal motor-sensory polyneuropathy and marked anxiety, depression, irritability, and memory and concentration difficulties ...
R, Milo   +4 more
openaire   +2 more sources

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