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Hormonal Counterregulation during standardized Hypoglycemia Test comparing Biosynthetic Human Proinsulin and Human Insulin [PDF]
, 1985 Ball, P. +4 more
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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 +7 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 +7 more sources
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 (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
openaire +3 more sources
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
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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 ...
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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 ...
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Archives of Internal Medicine, 1982
PAULA Davis, MD, Senior Assistant Resident in Medicine, the Jewish Hospital of St Louis: A 26-year-old woman was admitted for the first time at the Jewish Hospital for evaluation of a seizure disorder, weakness, hypertension, and possible tularemia. In August 1981, the patient was hospitalized because of fatigue and aching pain in the lower part of the
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PAULA Davis, MD, Senior Assistant Resident in Medicine, the Jewish Hospital of St Louis: A 26-year-old woman was admitted for the first time at the Jewish Hospital for evaluation of a seizure disorder, weakness, hypertension, and possible tularemia. In August 1981, the patient was hospitalized because of fatigue and aching pain in the lower part of the
openaire +1 more source