porphyria

(redirected from acute intermittent porphyria)
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Acute intermittent porphyria (AIP)--a neurological emergency--review of six cases.
Acute intermittent porphyria (AIP) is the most common of the acute hepatic porphyrias, and results from partial deficiency of porphobilinogen deaminase, the third enzyme of the haem synthetic pathway [Badminton and Elder, 2002].
Acute intermittent porphyria with peripheral neuropathy: A follow-up study after hematin treatment.
Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria.
Neurological manifestations of acute intermittent porphyria.
AIPGENE is a European Commission Framework Programme 7-funded consortium (Grant Agreement number 261506) which was put together with the aim to develop the orphan gene therapy drug AAV5-AAT-PBGD (AMT-021) for the treatment of Acute Intermittent porphyria (AIP).
The EC's approval is an important validation of our innovative product platform and offers strong support for our other advanced development programs, which focus on acute intermittent porphyria, Sanfilippo B, hemophilia B and Parkinson's disease.
Diagnosis of 65 cases of VP, 36 cases of PCT, 6 of acute intermittent porphyria (AIP), 3 of erythropoietic protoporphyria (EPP), 5 of X-linked protoporphyria and 1 of congenital erythropoietic porphyria was confirmed.
Acute intermittent porphyria (AIP) (3) is characterized by acute attacks of abdominal pain and neuropsychiatric symptoms that are precipitated by various factors such as drugs, hormonal changes, and physical/mental stress.
Acute porphyria is a term that includes three similar inherited diseases: acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP).
A suspicion of acute intermittent porphyria (AIP) was confirmed when a markedly elevated porphyrin level was detected in her blood and urine (urinary aminolaevulanic acid 1 521 ([micro]mol/10 mmol creatinine, normal <45; urinary porphobilinogen 1 426 ([micro]mol/10 mmol creatinine, normal <16, with a positive plasma peak at 619 nm).
Acute intermittent porphyria (AIP) (4) is an autosomal dominant disorder caused by a metabolic error in heme biosynthesis in which the third enzyme, porphobilinogen deaminase (PBGD; EC 2.
R]], uniQure has a product pipeline of gene therapy products in development for hemophilia B, Parkinson's disease, acute intermittent porphyria and SanfilippoB.
Four porphyrias can present with life-threatening acute neurovisceral attacks: [delta]-aminolevulinic acid dehydratase deficiency porphyria, acute intermittent porphyria (AIP), variegate porphyria (VP), and hereditary coproporphyria (HCP) (1).
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