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An analysis of112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity.
Acute intermittent porphyria presenting solely with psychosis: A case report and discussion.
Posterior reversible encephalopathy syndrome in a patient with acute intermittent porphyria.
Acute intermittent porphyria (AIP) [1] is a metabolic disease that results from the partial deficiency of porphobilinogen deaminase (PBGD; also known as hydroxymethylbilane synthase; EC 4.
Some patients, especially with acute intermittent porphyria, excrete excess PBG even in remission, but in an attack, this increases above their generally characteristic "basal" concentrations (1).
In addition to Glybera, AMT has a product pipeline of several gene therapy products in development for hemophilia B, Duchenne muscular dystrophy, acute intermittent porphyria, Parkinson's disease and SanfilippoB.
Clinically, the acute porphyrias, which include acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, present intermittently with neurovisceral signs and symptoms that may be severe, possibly leading to paralysis, and in some cases can be life threatening (4,5).
Hereditary neuroporphyrias [aminolevulinate dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, or variegate porphyria (VP)], and lead poisoning (LP), which is thought to be an acquired form of neuroporphyria, are characterized by enzymatic inhibitions along the heme biosynthetic pathway (1-3).
AMT has a product pipeline of several gene therapy products in development for hemophilia B, acute intermittent porphyria, Parkinson's disease and SanfilippoB.
Detection of four novel mutations in the porphobilinogen deaminase gene in French Caucasian patients with acute intermittent porphyria.
AMT will focus development efforts and financial resources on three gene therapy programs: hemophilia B, GDNF and acute intermittent porphyria

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