Modern diagnosis and management of the porphyrias (Q36586921)

15 August 2017

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title

Modern diagnosis and management of the porphyrias (English)

1 reference

15 August 2017

Shigeru Sassa

1

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PubMed ID

16956347

15 August 2017

language of work or name

English

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publication date

4 September 2006

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British Journal of Haematology

15 August 2017

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15 August 2017

135

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15 August 2017

281-292

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15 August 2017

3

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Estimation and application of biological variation of urinary delta-aminolevulinic acid and porphobilinogen in healthy individuals and in patients with acute intermittent porphyria

15 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Biosynthesis of the pigments of life: formation of the macrocycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

δ-Aminolaevulinic acid is a potent agonist for GABA autoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Congenital erythropoietic porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Porphyria cutanea tarda. Clinical features and laboratory findings in 40 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Molecular diagnostics of acute intermittent porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Hereditary coproporphyria in Germany: clinical-biochemical studies in 53 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

On the enzymic defects in hereditary tyrosinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Beta carotene therapy for erythropoietic protoporphyria and other photosensitivity diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

δ-Aminolevulinic acid: Influences on synaptic GABA receptor binding may explain CNS symptoms of porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Diagnosis and therapy of acute intermittent porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Liver transplantation as a cure for acute intermittent porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

Low-dose oral chloroquine in patients with porphyria cutanea tarda and low-moderate iron overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06289.X

10.1111/J.1365-2141.2006.06289.X

21 January 2018

Identifiers

DOI

1 reference

15 August 2017

1 reference

PubMed ID

16956347