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Epidemiological, clinical anf pathogenetic studies of acute intermittent porphyria
, 2008 Ingemar Bylesjö
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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
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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
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Journal of Inherited Metabolic Disease, 2021
Acute intermittent porphyria (AIP) is a rare metabolic disease caused by mutations within the hydroxymethylbilane synthase gene. Previous studies have reported increased levels of plasma total homocysteine (tHcy) in symptomatic AIP patients.
J. To-Figueras +9 more
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Acute intermittent porphyria (AIP) is a rare metabolic disease caused by mutations within the hydroxymethylbilane synthase gene. Previous studies have reported increased levels of plasma total homocysteine (tHcy) in symptomatic AIP patients.
J. To-Figueras +9 more
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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
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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
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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 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, 1989A 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
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Australasian Annals of Medicine, 1959
SummaryA family in which 11 cases of acute intermittent porphyria were found in three consecutive generations has been studied. Evidence is presented that inheritance was by an autosomal dominant gene.The usefulness of the Watson and Schwartz test in such a study and in the diagnosis of acute cases is discussed.
D H, CURNOW, E H, MORGAN, G A, SARFATY
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SummaryA family in which 11 cases of acute intermittent porphyria were found in three consecutive generations has been studied. Evidence is presented that inheritance was by an autosomal dominant gene.The usefulness of the Watson and Schwartz test in such a study and in the diagnosis of acute cases is discussed.
D H, CURNOW, E H, MORGAN, G A, SARFATY
openaire +2 more sources