Diagnosis and management of porphyria (Q24527280)

Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria

Europe PubMed Central

title

Diagnosis and management of porphyria (English)

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H Thadani

1

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A Deacon

series ordinal

2

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T Peters

series ordinal

3

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language of work or name

English

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publication date

17 June 2000

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published in

The BMJ

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volume

320

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page(s)

1647-51

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issue

7250

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Early administration of heme arginate for acute porphyric attacks

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Carotenoids in erythropoietic protoporphyria and other photosensitivity diseases

27 September 2017

1 reference

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Erythropoietic protoporphyria.

27 September 2017

1 reference

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Porphyrias: animal models and prospects for cellular and gene therapy.

27 September 2017

1 reference

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Seizure management in acute hepatic porphyria: risks of valproate and clonazepam

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Porphyrias, porphyrins and hepatocellular cancer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Agents affecting porphyrin formation and secretion: implications for porphyria cutanea treatment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Laboratory investigation of the porphyrias

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Smoking and recurrent attacks of acute intermittent porphyria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Free radicals involvement in neurological porphyrias and lead poisoning

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Congenital erythropoietic porphyria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Acute porphyrias: pathogenesis of neurological manifestations

27 September 2017

1 reference

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Effects of new anticonvulsant medications on porphyrin synthesis in cultured liver cells: potential implications for patients with acute porphyria

30 May 2018

1 reference

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Low-dose oral chloroquine in the treatment of porphyria cutanea tarda

30 May 2018

1 reference

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Pregnancy and the acute porphyrias

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1127427

Acute intermittent porphyria with seizures. Anticonvulsant medication-induced metabolic changes

29 November 2018

1 reference

12 December 2020

Grand mal seizures and acute intermittent porphyria. The problem of differential diagnosis and treatment

1 reference

12 December 2020

A plasma porphyrin fluorescence marker for variegate porphyria

1 reference

12 December 2020

Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases

1 reference

12 December 2020

Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria

1 reference

12 December 2020

Advances in understanding and treating 'the little imitator,' acute porphyria

1 reference

12 December 2020

Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma

1 reference

12 December 2020

Successful treatment of seizures and porphyria with gabapentin

1 reference

12 December 2020

Gabapentin treatment of seizures in acute intermittent porphyria

1 reference

12 December 2020

Is the Watson-Schwartz screening method for porphobilinogen reliable?

1 reference

12 December 2020

1 reference

12 December 2020

Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload

1 reference

12 December 2020

Porphyria cutanea tarda

1 reference

12 December 2020

10.1136/BMJ.320.7250.1647

Identifiers

DOI

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release_yciuiiclibfgfhbmru6mrwclfq

1731715

Fatcat ID

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1731715

1 reference

1 reference

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