Results 11 to 20 of about 8,404 (212)
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies
Case Reports in Genetics, 2020 Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino +6 more
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Acute Intermittent Porphyria: Current Perspectives And Case Presentation
Therapeutics and Clinical Risk Management, 2019 Zachary Spiritos,1 Shakirat Salvador,2 Diana Mosquera,3 Julius Wilder1,4 1Department of Medicine, Division of Gastroenterology, Duke University School of Medicine, Durham, NC, USA; 2Department of Medicine, Division of Gastroenterology, Vanderbilt ...
Spiritos Z +3 more
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Feigning Acute Intermittent Porphyria [PDF]
Case Reports in Psychiatry, 2014 Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. Feigning
Rania Elkhatib +5 more
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Radiopharmaceuticals in Acute Porphyria [PDF]
Clinical Therapeutics, 2016 Purpose: The acute porphyrias are a group of rare metabolic disorders of the heme biosynthetic pathway. Carriers of the acute porphyria gene are prone to potentially fatal acute attacks, which can be precipitated by drug exposure.
Mamedova, Ilahä +3 more
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Journal of Clinical and Translational Hepatology, 2015 The porphyrias comprise a set of diseases, each representing an individual defect in one of the eight enzymes mediating the pathway of heme synthesis. The diseases are genetically distinct but have in common the overproduction of heme precursors.
Wang, Bruce, Bissell, D Montgomery
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An update of clinical management of acute intermittent porphyria
The Application of Clinical Genetics, 2015 Elena Pischik,1,2 Raili Kauppinen,11Porphyria Research Unit, Division of Endocrinology, Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland; 2Department of Neurology, Consultative and Diagnostic Centre with Polyclinics, St ...
Pischik E, Kauppinen R
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Post- Partum Acute Intermittent Porphyria - A Case Report
The Indian Anaesthetists' Forum, 2010 Porphyrias are inherited disorders, each involving a specific enzyme in heme biosynthetic pathways. Acute intermittent porphyria, one of the hepatic porphyria is the most severe form of the disease, with gastrointestinal and neuropsychiatric ...
Gaurav Tomar +3 more
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Management of hyponatremia associated with acute porphyria-proposal for the use of tolvaptan. [PDF]
Ann Transl Med, 2020 Hyponatremia is a common feature during the neurovisceral acute attacks which characterize hepatic porphyrias, as well as a sign of its severity.
Solares I +6 more
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International Journal of Clinical Practice, 1993 SUMMARYThe porphyrias are a heterogeneous group of rare inborn errors of metabolism caused by inherited enzyme defects in the haem biosynthetic pathway, resulting in overproduction of porphyrins. The porphyrias can be distinguished biochemically but may be difficult to differentiate clinically.
G Y, Lip, K E, McColl, M R, Moore
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The diagnosis and management of porphyria cutanea tarda (PCT)
South African Family Practice, 2009 The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
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