Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients (Q44161614)

30 November 2017

Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients (English)

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genotype-phenotype correlation

30 November 2017

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Mikael von und zu Fraunberg

1

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30 November 2017

Kaisa Timonen

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30 November 2017

Pertti Mustajoki

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30 November 2017

Raili Kauppinen

4

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30 November 2017

1 October 2002

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European Journal of Human Genetics

30 November 2017

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30 November 2017

10

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30 November 2017

649-657

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30 November 2017

10

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200860

30 November 2017

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cites work

Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria

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Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli

21 January 2018

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The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1

21 January 2018

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Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23.

21 January 2018

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Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene

21 January 2018

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A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

21 January 2018

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Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria

21 January 2018

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Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene

21 January 2018

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Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene

21 January 2018

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Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband

21 January 2018

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Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene

21 January 2018

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The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene

21 January 2018

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Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation

21 January 2018

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Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile

21 January 2018

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A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria

21 January 2018

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Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene

21 January 2018

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Novel splicing mutation of the PPOX gene (IVS10 + 1G-->A) detected by denaturing high-performance liquid chromatography.

21 January 2018

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Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria

21 January 2018

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Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect

21 January 2018

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Homozygous variegate porphyria in South Africa: genotypic analysis in two cases

21 January 2018

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Analysis of urine and faecal porphyrins by HPLC coupled to an advanced automated sample processor

21 January 2018

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Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme

21 January 2018

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Cytochrome P450 enzyme system: genetic polymorphisms and impact on clinical pharmacology

21 January 2018

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Antipyrine metabolism in acute hepatic porphyria in relapse and remission

21 January 2018

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Haem arginate improves hepatic oxidative metabolism in variegate porphyria

21 January 2018

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Effects of heme arginate on cytochrome P450-mediated metabolism of drugs in patients with variegate porphyria and in healthy men.

21 January 2018

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Acute porphyrias: pathogenesis of neurological manifestations

21 January 2018

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Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria

21 January 2018

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The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts

21 January 2018

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7 January 2021

The inherited enzymatic defect in porphyria variegata

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7 January 2021

Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma

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7 January 2021

Clinical utility of fluorometric scanning of plasma porphyrins for the diagnosis and typing of porphyrias

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7 January 2021

Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins

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7 January 2021

Thyroglobulin in serum as an indicator of iodine status during pregnancy

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7 January 2021

The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town

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7 January 2021

Molecular characterization of homozygous variegate porphyria

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200860

7 January 2021

Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200860

7 January 2021

A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200860

7 January 2021

Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200860

7 January 2021

A plasma porphyrin fluorescence marker for variegate porphyria

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7 January 2021

Urine and faecal porphyrin profiles by reversed-phase high-performance liquid chromatography in the porphyrias

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200860

7 January 2021

CYP3A-inducing agents and the attenuation of uroporphyrin accumulation and excretion in a rat model of porphyria cutanea tarda

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200860

7 January 2021

Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200860

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200860

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Dimensions Publication ID

30 November 2017

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