Results 51 to 60 of about 36,453 (301)
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report
Anais da Academia Brasileira de Ciências, 2013 Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen.
ANNA R.R. DOS SANTOS +4 more
doaj +1 more source
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
core +1 more source
Therapeutic strategies for acute intermittent porphyria.
Intractable & Rare Diseases Research, 2020 Acute intermittent porphyria (AIP) is an autosomal dominant disease caused by mutations in porphobilinogen deaminase (PBGD), the third enzyme of the heme synthesis pathway.
Lanlan Zhao +6 more
semanticscholar +1 more source
19-year-old female with abdominal pain [PDF]
Romanian Journal of Neurology, 2013 Porphyria is a group of at least 8 diseases that differ greatly between them. Common feature of these diseases is the accumulation in the body of porphyrins or porphyrin precursors, due to defects of specific enzymes in the biosynthesis of heme.
Ioan Buraga, Adrian-Florin Dobrescu
doaj +1 more source
Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study [PDF]
, 2016 Background: The acute hepatic porphyrias (AHPs) are rare inborn errors of heme biosynthesis, characterized clinically by life-threatening acute neurovisceral attacks.
Balwani, M +4 more
core +1 more source
Recent advances in the epidemiology and genetics of acute intermittent porphyria.
Intractable & Rare Diseases Research, 2020 Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS).
Liyan Ma +4 more
semanticscholar +1 more source
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
doaj +1 more source
An overview of the cutaneous porphyrias [PDF]
, 2017 This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
A Anstey +71 more
core +3 more sources
Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations.
Intractable & Rare Diseases Research, 2020 Porphyrias are a group of inherited metabolic diseases that include eight types, each of which is caused by a mutation that affects an enzyme of the heme biosynthetic pathway.
Yuelin Ma +3 more
semanticscholar +1 more source
Acute porphyrias – A neurological perspective
Brain and Behavior, 2021 Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs
Lea M. Gerischer +5 more
doaj +1 more source