Anesthesia for hemicolectomy in a known porphyric with cecal malignancy
Saudi Journal of Anaesthesia, 2015 Intraoperative management of a known acute intermittent porphyria patient is a challenge requiring awareness of factors, which trigger an acute crisis, clinical features of a porphyric attack, knowledge of safe pharmacologic intervention, and ...
B K Naithani +3 more
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Safe use of perampanel in a carrier of variegate porphyria [PDF]
, 2016 Objectives. Treatment of chronic epilepsy in acute porphyrias may be difficult because many antiepileptic drugs can cause activation of clinically-latent conditions. Methods.
Balestrini, S +3 more
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Acute intermittent porphyria in the puerperium [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2010 Introduction. Acute intermittent porphyria emerges as a result of partial defect of porphobilinogen deaminase and is manifested by repeated episodes of somatic, psychiatric and neurological disorders.
Sparić Radmila +7 more
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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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Delivering efficient liver-directed AAV-mediated gene therapy. [PDF]
, 2017 Adeno-associated virus vectors (AAV) have become the leading technology for liver-directed gene therapy. After the pioneering trials using AAV2 and AAV8 to treat haemophilia B, D’Avola et al.
Alexander, IE +3 more
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Fibulin-1 is a marker for arterial extracellular matrix alterations in type 2 diabetes [PDF]
, 2011 Extracellular matrix alterations are important elements in the arterial changes seen in diabetes, being associated with increased vascular stiffness and the development of cardiovascular diseases.
Aagard, Jan +16 more
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Acute intermittent porphyria (AIP) in a patient with celiac disease
Neurological Research and Practice, 2020 We present the case of an 18 year old Caucasian with known celiac disease, who suffered a severe first attack of acute intermittent porphyria (AIP) with neuropsychiatric symptoms, severe tetraparesis and respiratory insufficiency.
Sebastian Nunnemann +3 more
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Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
A family with acute intermittent porphyria [PDF]
, 2008 Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms.
Billoo, Abdul Gaffar, Lone, Saira Waqar
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Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria [PDF]
, 1992 A deficiency in the activity of uroporphyrinogen decarboxylase (UROD), the fifth enzyme of the haem biosynthetic pathway, is found in familial porphyria cutanea tarda (F-PCT) and hepatoerythropoietic porphyria (HEP). A new mutation (R292G) and a deletion
Bourgeois, F. (Francine) +6 more
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