Results 121 to 130 of about 3,292 (173)

Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates. [PDF]

open access: yesGut
Córdoba KM   +29 more
europepmc   +1 more source

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.
Bernard Grandchamp
exaly   +5 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 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

Hyperinsulinemia in Acute Intermittent Porphyria

Hormone and Metabolic Research, 1985
Diabetic oral glucose tolerance test together with hyperinsulinemia in a patient with decompensated acute intermittent porphyria is contrasted to normal findings in compensated acute intermittent porphyria (AIP). Results point to the essential role of insulin for the depression of porphyrin precursor overproduction as a mediator of the "glucose effect".
F, Sixel-Dietrich, F, Verspohl, M, Doss
openaire   +2 more sources

Acute Intermittent Porphyria

Australian and New Zealand Journal of Surgery, 1973
This rare inherited disease presents with abdominal pain, psychiatric symptoms and neuropathies. Because it may mimic an acute surgical (or less frequently, psychiatric) emergency, it is important in clinical practice. The complication of respiratory paralysis, with a mortality of over 90%, is almost solely due to aggravation of an attack by drugs ...
openaire   +2 more sources

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