Purple pigments: the pathophysiology of acute porphyric neuropathy
The porphyrias are inherited metabolic disorders arising from disturbance in the haem
biosynthesis pathway. The neuropathy associated with acute intermittent porphyria (AIP) …
biosynthesis pathway. The neuropathy associated with acute intermittent porphyria (AIP) …
[HTML][HTML] Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria
D D'Avola, E López-Franco, B Sangro, A Pañeda… - Journal of …, 2016 - Elsevier
Background & Aims Acute intermittent porphyria (AIP) results from porphobilinogen
deaminase (PBGD) haploinsufficiency, which leads to hepatic over-production of the …
deaminase (PBGD) haploinsufficiency, which leads to hepatic over-production of the …
Regulation and gene expression of heme synthesis under heavy metal exposure-review
A Schauder, A Avital, Z Malik - Journal of Environmental …, 2010 - dl.begellhouse.com
Environmental pollution of heavy metals is very abundant nowadays from industry,
chemicals, old paints, and pipes or resulting from previous contaminants accumulating in the …
chemicals, old paints, and pipes or resulting from previous contaminants accumulating in the …
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria
H Lenglet, C Schmitt, T Grange… - Human molecular …, 2018 - academic.oup.com
Acute intermittent porphyria (AIP) is a disease affecting the heme biosynthesis pathway
caused by mutations of the hydroxymethylbilane synthase (HMBS) gene. AIP is thought to …
caused by mutations of the hydroxymethylbilane synthase (HMBS) gene. AIP is thought to …
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild …
Y Zheng, J Xu, S Liang, D Lin, S Banerjee - Frontiers in Genetics, 2018 - frontiersin.org
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal
dominant mode of inheritance. Germline mutations of HMBS gene causes AIP. Mutation of …
dominant mode of inheritance. Germline mutations of HMBS gene causes AIP. Mutation of …
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or …
SD Whatley, NG Mason, JR Woolf… - Clinical …, 2009 - academic.oup.com
Background: Clinically indistinguishable attacks of acute porphyria occur in acute
intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP) …
intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP) …
Nerve function and dysfunction in acute intermittent porphyria
CSY Lin, AV Krishnan, MJ Lee, AS Zagami, HL You… - Brain, 2008 - academic.oup.com
Acute intermittent porphyria (AIP) is a rare metabolic disorder characterized by mutations of
the porphobilinogen deaminase gene. Clinical manifestations of AIP are caused by the …
the porphobilinogen deaminase gene. Clinical manifestations of AIP are caused by the …
Structural insight into acute intermittent porphyria
G Song, Y Li, C Cheng, Y Zhao, A Gao… - The FASEB …, 2009 - Wiley Online Library
Acute intermittent porphyria (AIP), an inherited disease of heme biosynthesis, is one of the
most common types of porphyria. Reduced activity of the enzyme porphobilinogen …
most common types of porphyria. Reduced activity of the enzyme porphobilinogen …
Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute …
C Unzu, A Sampedro, I Mauleón, L Vanrell, J Dubrot… - Journal of …, 2010 - Elsevier
BACKGROUND & AIMS: Acute intermittent porphyria (AIP) is characterized by hepatic
porphobilinogen deaminase (PBGD) deficiency resulting in a marked overproduction of …
porphobilinogen deaminase (PBGD) deficiency resulting in a marked overproduction of …
Compositions and methods for inhibiting expression of the ALAS1 gene
B Bettencourt, K Fitzgerald, W Querbes… - US Patent …, 2015 - Google Patents
First worldwide family litigation filed litigation Critical https://patents. darts-ip. com/? family=
48326393&utm_source= google_patent&utm_medium= platform_link&utm_campaign …
48326393&utm_source= google_patent&utm_medium= platform_link&utm_campaign …