|1.||Frank, J: 5 articles (02/2012 - 01/2001)|
|2.||Frank, Jorge: 4 articles (03/2015 - 07/2006)|
|3.||Poblete-Gutiérrez, Pamela: 4 articles (03/2015 - 07/2006)|
|4.||Schneider-Yin, Xiaoye: 3 articles (03/2015 - 08/2006)|
|5.||Poblete-Gutiérrez, P: 3 articles (02/2012 - 01/2006)|
|6.||Meissner, Peter N: 3 articles (05/2006 - 08/2003)|
|7.||Christiano, A M: 3 articles (01/2006 - 01/2001)|
|8.||Deybach, Jean-Charles: 3 articles (07/2004 - 02/2002)|
|9.||Went, Philip: 2 articles (03/2015 - 09/2010)|
|10.||van Geel, Michel: 2 articles (03/2015 - 11/2011)|
|1.||Variegate Porphyria (Protoporphyrinogen Oxidase Deficiency)
02/01/2002 - "Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria."
04/01/1998 - "Our study establishes the molecular basis of "homozygous" variegate porphyria for the first time, in demonstrating that this patient is a compound heterozygote for two different missense mutations in the protoporphyrinogen oxidase gene."
05/01/2015 - "She was biochemically diagnosed with variegate porphyria, and mutational analysis confirmed the presence of a heterozygous mutation in the protoporphyrinogen oxidase gene. "
04/26/2013 - "Defects in the human protoporphyrinogen oxidase (hPPO) gene, resulting in ~50% decreased activity of hPPO, is responsible for the dominantly inherited disorder variegate porphyria (VP). "
01/01/2013 - "Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria."
|2.||Acute Intermittent Porphyria (Porphyria, Acute)
01/01/2008 - "A partial deficiency in Protoporphyrinogen oxidase (PPOX) produces the mixed disorder Variegate Porphyria (VP), the second acute porphyria more frequent in Argentina. "
06/01/2003 - "A partial deficiency in another enzyme, protoporphyrinogen oxidase, produces variegate porphyria (VP), the second acute porphyria most frequent in the Argentinean population (1:600,000). "
03/01/2015 - "Variegate porphyria (VP) and acute intermittent porphyria (AIP), the two most common types of acute porphyrias (AHPs), result from a partial deficiency of protoporphyrinogen oxidase (PPOX) and hydroxymethylbilane synthase (HMBS), respectively. "
03/01/2015 - "Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias."
07/01/1993 - "Chester porphyria is a distinct type of acute porphyria, which shows a biochemical overlap with acute intermittent and variegate porphyrias and has a dual enzyme deficiency of porphobilinogen deaminase (PBGD) and protoporphyrinogen oxidase. "
01/01/2015 - "Sequencing of the protoporphyrinogen oxidase gene, the gene altered in this type of porphyria, revealed three previously undescribed mutations: c.338+3insT, c.807G>A, and c.808-1G>C. "
02/01/1997 - "Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias."
07/01/1994 - "The diagnosis of porphyria variegata was made in the course of a familial survey by means of measuring lymphocyte protoporphyrinogen oxidase activity, at a time when the patient had no symptoms. "
10/21/1989 - "Mean protoporphyrinogen oxidase activity in lymphoblasts from subjects with dual porphyria was decreased by 45% from 0.82 +/- 0.10 to 0.45 +/- 0.09 nmol protoporphyrin/mg protein/h (P less than 0.001). "
05/15/1989 - "By analogy to human porphyria, the accumulation could be attributed to decreased (Mg or Fe)-chelatase or protoporphyrinogen oxidase activities. "
|4.||Hepatic Porphyrias (Hepatic Porphyria)
08/01/1998 - "Variegate porphyria (VP), one of the acute hepatic porphyrias, is characterized by a partial reduction in the activity of protoporphyrinogen oxidase (PPO), and recently, mutations in the PPO gene on chromosome 1q22-23 have been described. "
03/01/1996 - "Variegate porphyria (VP) is an acute hepatic porphyria with autosomal dominant inheritance due to a partial deficiency of protoporphyrinogen oxidase (PPOX) activity. "
10/01/2012 - "Porphyria variegata (VP) is one of the hepatic porphyrias that results from the deficiency of protoporphyrinogen oxidase, an enzyme in the heme synthesis pathway. "
09/01/2010 - "Variegate porphyria is an acute hepatic porphyria resulting from a partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in haem biosynthesis. "
01/01/2009 - "Variegate porphyria (VP), one of the acute hepatic porphyrias, results from an autosomal dominantly inherited deficiency of protoporphyrinogen oxidase (PPOX), the seventh enzyme in heme biosynthesis. "
|5.||Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)
02/01/2004 - "This mechanism may provide a model for phenotype modulation by minor variations in the expression of the wild-type allele in the other three autosomal dominant porphyrias that exhibit incomplete penetrance: acute intermittent porphyria (AIP), variegata porphyria (VP) and hereditary coproporphyria (HC), which are caused by partial deficiencies of hydroxy-methyl bilane synthase (HMBS), protoporphyrinogen oxidase (PPOX) and coproporphyrinogen oxidase (CPO), respectively. "
01/01/2014 - "Acute intermittent porphyria (AIP), variegate porphyria (VP), and hereditary coproporphyria (HCP) are caused by mutations in the hydroxymethylbilane synthase (HMBS), protoporphyrinogen oxidase (PPOX), and coproporphyrinogen oxidase (CPOX) genes, respectively. "
12/01/1979 - "In the acute porphyrias; acute intermittent porphyria, urophorphyrinogen 1 synthase, hereditary coproporphyria, coproporphyrinogen oxidase and variegate porphyria, ferrochelatase or protoporphyrinogen oxidase, are the enzymes affected, whilst in the non acute porphyrias, cutaneous hepatic porphyria, uroporphyrinogen decarboxylase, congenital porphyria, uroporphyrinogen cosynthase; and erythropoietic protoporphyria; ferrochelatase are the enzymes affected. "
|2.||Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)
|4.||Ferrochelatase (Heme Synthetase)
|5.||Coproporphyrinogen Oxidase (Coproporphyrinogen III Oxidases)
|6.||Uroporphyrinogen Decarboxylase (Uroporphyrinogen III Decarboxylase)
|7.||Complementary DNA (cDNA)
|10.||protoporphyrinogen (protoporphyrinogen IX)
|1.||Photochemotherapy (Photodynamic Therapy)