Results 11 to 20 of about 1,465,884 (208)

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, Salvador S, Mosquera D, Wilder J   +3 more
doaj   +1 more source

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, L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera, M. V. Rossetti   +6 more
doaj   +2 more sources

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, Modupe Idowu, Gregory S. Brown, Yasmeen M. Jaber, Matthew B. Reid, Cheryl Person   +5 more
doaj   +2 more sources

Acute Hepatic Porphyria [PDF]

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. In the case of the acute (neurologic) porphyrias, the cause of symptoms appears to be overproduction of a ...
Bissell, D Montgomery, Wang, Bruce
openaire   +6 more sources

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
doaj   +1 more source

Radiopharmaceuticals in Acute Porphyria [PDF]

Clinical Therapeutics, 2016
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. It is therefore important to know whether a drug is safe for carriers of the acute porphyria gene.
Schreuder, Nanno, Mamedova, Ilahä, Jansman, Frank G A   +2 more
openaire   +4 more sources

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, Ashish Sethi, TC Kriplani, Neeraj Narang   +3 more
doaj   +1 more source

Metastases-Like Liver Lesions in Two Different Types of Porphyria - Porphyria Cutanea Tarda (PCT) and Acute Hepatic Porphyria (AHP) - and the Role of CEUS. [PDF]

, 2023
Porphyria are a group of metabolic disorders caused by altered activity of enzymes in the heme biosynthesis pathway. Acute hepatic porphyria (AHP) are due to hepatic overproduction of the porphyrin precursors, delta aminolevulinic acid, and ...
Correa Londoño, Martina, Weiss, Daniel
core   +1 more source

Advanced Management of Acute Intermittent Porphyria: The Role of Givosiran Therapy in Improving Long-Term Outcomes-A Case Study. [PDF]

Clin Case Rep
ABSTRACT Acute intermittent porphyria is a rare disorder causing neurotoxic precursor accumulation and severe neurological complications. We report a case progressing to tetraplegia and respiratory failure with delayed diagnosis. Treatment with hemin and givosiran resulted in prevention of attacks and functional recovery, highlighting the importance of
de Araújo Karpejany NRA, do Monte Neto JT, Pereira EM, Carvalho IAF, de Serpa Brandão RMS, da Silva AS, Dos Santos TSB, do Monte SJH.   +7 more
europepmc   +2 more sources

Multiple sclerosis or neuromyelitis optica? Re-evaluating an 18th-century illness using 21st-century software. [PDF]

, 2012
In this paper we report the application of an extensive database of symptoms, signs, laboratory findings and illnesses, to the diagnosis of an historical figure.
Garrard, P, Peters, TJ
core   +1 more source