Porphyria: What Is It and Who Should Be Evaluated? (Q54941174)

13 June 2018

title

Porphyria: What Is It and Who Should Be Evaluated? (English)

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13 June 2018

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Yonatan Edel

1

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13 June 2018

Rivka Mamet

series ordinal

2

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13 June 2018

language of work or name

English

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publication date

19 April 2018

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13 June 2018

Rambam Maimonides Medical Journal

published in

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13 June 2018

volume

9

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13 June 2018

issue

2

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13 June 2018

Disappearance of multiple hyperechoic liver nodules in sporadic porphyria cutanea tarda after treatment with ledipasvir/sofosbuvir for hepatitis C.

cites work

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Pharmacokinetics and Pharmacodynamics of Afamelanotide and its Clinical Use in Treating Dermatologic Disorders

16 June 2018

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Update review of the acute porphyrias

16 June 2018

1 reference

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Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

16 June 2018

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Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

An update of clinical management of acute intermittent porphyria

16 June 2018

1 reference

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16 June 2018

1 reference

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Porphyrias: A 2015 update

16 June 2018

1 reference

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High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Role of delta-aminolevulinic acid in the symptoms of acute porphyria

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Clinically important features of porphyrin and heme metabolism and the porphyrias

16 June 2018

1 reference

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Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Vitamin D deficiency in patients with erythropoietic protoporphyria

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

The incidence of inherited porphyrias in Europe

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Acute intermittent porphyria presenting solely with psychosis: a case report and discussion.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Evaluation of gonadotropin-releasing hormone agonist treatment for prevention of menstrual-related attacks in acute porphyria

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Neurological manifestations of acute intermittent porphyria.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Serum 25-hydroxyvitamin D in erythropoietic protoporphyria

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Modern diagnosis and management of the porphyrias

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Open-label study of hemin for acute porphyria: clinical practice implications

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Molecular mechanisms of dominant expression in porphyria

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

ED presentation of acute porphyria.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Alcohol and porphyrin metabolism

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Acute porphyrias: pathogenesis of neurological manifestations

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Plumboporphyria (ALAD deficiency) in a lead worker: a scenario for potential diagnostic confusion

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Erythropoietic protoporphyria 10 years experience

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Studies in porphyria. VIII. Relationship of the 5 alpha-reductive metabolism of steroid hormones to clinical expression of the genetic defect in acute intermittent porphyria

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

The long term treatment with B-carotene in erythropoietic protoporphyria: a controlled trial

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

δ-Aminolaevulinic acid is a potent agonist for GABA autoreceptors

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

An overview of the cutaneous porphyrias.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Osteoporosis in patients with erythropoietic protoporphyria.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Best practice guidelines on first-line laboratory testing for porphyria.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Posterior reversible encephalopathy syndrome in acute intermittent porphyria.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Acute intermittent porphyria: psychosis as the only clinical manifestation.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

5-Aminolevulinic acid inhibits [3H]muscimol binding to human and rat brain synaptic membranes.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

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

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5916231

Hypertension and renal impairment as complications of acute porphyria

13 August 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks

1 reference

12 December 2020

Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France

1 reference

12 December 2020

Renal symptomatology in patients with acute intermittent porphyria. A population-based study

1 reference

12 December 2020

The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study

1 reference

12 December 2020

Lead poisoning: a new biochemical perspective on the differentiation between acquired and hereditary neuroporphyria

1 reference

12 December 2020

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

1 reference

12 December 2020

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family

1 reference

12 December 2020

A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma

1 reference

12 December 2020

Successful Treatment of Congenital Erythropoietic Porphyria Using Matched Unrelated Hematopoietic Stem Cell Transplantation

1 reference

12 December 2020

The cutaneous porphyrias

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.5041/RMMJ.10333

1 reference

13 June 2018

PMCID

5916231

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13 June 2018

PubMed ID

29553924

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13 June 2018