Results 131 to 140 of about 7,124 (172)
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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.
Bernard Grandchamp
exaly +3 more sources
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 +3 more sources
The Lancet, 1997
Public attention has been drawn to the acute porphyrias in the past few years by speculation that they affected the character of George III and the creative genius of Vincent van Gogh. During the same period, there have been important advances in the understanding of the molecular basis of the acute porphyrias and in diagnosis and the clinical ...
G H, Elder, R J, Hift, P N, Meissner
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Public attention has been drawn to the acute porphyrias in the past few years by speculation that they affected the character of George III and the creative genius of Vincent van Gogh. During the same period, there have been important advances in the understanding of the molecular basis of the acute porphyrias and in diagnosis and the clinical ...
G H, Elder, R J, Hift, P N, Meissner
openaire +2 more sources
The Journal of Emergency Medicine, 2015
Porphyrias are a group of eight metabolic disorders characterized by defects in heme biosynthesis. Porphyrias are classified into two major categories: 1) the acute or inducible porphyrias and 2) the chronic cutaneous porphyrias. The acute hepatic porphyrias are further classified into acute intermittent porphyria (AIP), hereditary coproporphyria ...
Siddesh, Besur +2 more
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Porphyrias are a group of eight metabolic disorders characterized by defects in heme biosynthesis. Porphyrias are classified into two major categories: 1) the acute or inducible porphyrias and 2) the chronic cutaneous porphyrias. The acute hepatic porphyrias are further classified into acute intermittent porphyria (AIP), hereditary coproporphyria ...
Siddesh, Besur +2 more
openaire +2 more sources
Clinics in Dermatology, 1985
Abstract It has long been recognized that patients with certain types of porphyria are subject to bizarre neurologic episodes or "acute attacks." This syndrome has captured the imagination of both clinicians and edical historians, the latter debating earnestly and regularly whether porphyria was the cause of George III of Britain's "madness" or Mary ...
P B, Disler, M R, Moore
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Abstract It has long been recognized that patients with certain types of porphyria are subject to bizarre neurologic episodes or "acute attacks." This syndrome has captured the imagination of both clinicians and edical historians, the latter debating earnestly and regularly whether porphyria was the cause of George III of Britain's "madness" or Mary ...
P B, Disler, M R, Moore
openaire +2 more sources
Brain and Development, 1999
The various types of acute porphyria are discussed, as well as their mode of inheritance and the enzyme deficiencies responsible for the symptoms. The symptoms and signs of an acute attack are then described, especially those due to neuropathies and to disturbances of behaviour. Agents which can precipitate attacks are listed. These are most frequently
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The various types of acute porphyria are discussed, as well as their mode of inheritance and the enzyme deficiencies responsible for the symptoms. The symptoms and signs of an acute attack are then described, especially those due to neuropathies and to disturbances of behaviour. Agents which can precipitate attacks are listed. These are most frequently
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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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Management of the acute porphyrias
Photodermatology, Photoimmunology & Photomedicine, 1998Three hepatic porphyrias — acute intermittent porphyria, hereditary co‐proporphyria and variegate porphyria — are characterized by episodic acute attacks that consist of various neuro‐psychiatric symptoms and signs, such as abdominal pain, vomiting, constipation, hypertension and tachycardia associated with increased excretion of porphyrins and ...
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Hospital Medicine, 2001
Haem preparations are now available for the specific treatment of attacks of acute porphyria. This review focuses on their use in this uncommon but life-threatening medical emergency.
G H, Elder, R J, Hift
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Haem preparations are now available for the specific treatment of attacks of acute porphyria. This review focuses on their use in this uncommon but life-threatening medical emergency.
G H, Elder, R J, Hift
openaire +2 more sources