Clinically important features of porphyrin and heme metabolism and the porphyrias (Q34785744)

4 August 2017

1 reference

title

Clinically important features of porphyrin and heme metabolism and the porphyrias (English)

1 reference

4 August 2017

4

Herbert L Bonkovsky

1 reference

4 August 2017

Siddesh Besur

1

1 reference

PubMed ID

25372274

4 August 2017

Wehong Hou

series ordinal

2

1 reference

PubMed ID

25372274

4 August 2017

Paul Schmeltzer

series ordinal

3

1 reference

4 August 2017

3 November 2014

1 reference

4 August 2017

1 reference

4 August 2017

4

1 reference

4 August 2017

977-1006

1 reference

4 August 2017

4

1 reference

Creative Commons Attribution 4.0 International

4 August 2017

start time

3 November 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Clinical and biochemical improvement following low-dose intravenous iron therapy in a patient with erythropoietic protoporphyria

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Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda

8 July 2018

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8 July 2018

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The let-7 microRNA enhances heme oxygenase-1 by suppressing Bach1 and attenuates oxidant injury in human hepatocytes

8 July 2018

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8 July 2018

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Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells

8 July 2018

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8 July 2018

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Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria

8 July 2018

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MicroRNA-196 represses Bach1 protein and hepatitis C virus gene expression in human hepatoma cells expressing hepatitis C viral proteins

8 July 2018

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Combined liver and kidney transplantation in acute intermittent porphyria

8 July 2018

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Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery

8 July 2018

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Negative feedback maintenance of heme homeostasis by its receptor, Rev-erbalpha

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

MicroRNAs: target recognition and regulatory functions

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Differential regulation of human ALAS1 mRNA and protein levels by heme and cobalt protoporphyrin

8 July 2018

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Zinc mesoporphyrin induces rapid and marked degradation of the transcription factor Bach1 and up-regulates HO-1.

8 July 2018

1 reference

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A viral microRNA functions as an orthologue of cellular miR-155

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Liver transplantation for porphyria: who, when, and how?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Liver transplantation for erythropoietic protoporphyria liver disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Haem repression of the housekeeping 5-aminolaevulinic acid synthase gene in the hepatoma cell line LMH.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Molecular mechanisms of dominant expression in porphyria

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Recommendations for the diagnosis and treatment of the acute porphyrias

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

An alternatively-spliced exon in the 5'-UTR of human ALAS1 mRNA inhibits translation and renders it resistant to haem-mediated decay

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Role of the heme regulatory motif in the heme-mediated inhibition of mitochondrial import of 5-aminolevulinate synthase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Examination of mitochondrial protein targeting of haem synthetic enzymes: in vivo identification of three functional haem-responsive motifs in 5-aminolaevulinate synthase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Role of Bach-1 in regulation of heme oxygenase-1 in human liver cells: insights from studies with small interfering RNAS

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

The role of heme oxygenase-1 promoter polymorphisms in human disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

The functions of animal microRNAs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Identification of the xenosensors regulating human 5-aminolevulinate synthase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Hepatic nuclear factor 3 and nuclear factor 1 regulate 5-aminolevulinate synthase gene expression and are involved in insulin repression.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

MicroRNAs: genomics, biogenesis, mechanism, and function

8 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

8 July 2018

https://api.crossref.org/works/10.3390%2FMETABO4040977

Erythropoietic protoporphyria. A new porphyria syndrome with solar urticaria due to protoporphyrinaemia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Prevalence of hepatitis C virus infection in porphyria cutanea tarda: systematic review and meta-analysis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Human hereditary hepatic porphyrias

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Drugs mediate the transcriptional activation of the 5-aminolevulinic acid synthase (ALAS1) gene via the chicken xenobiotic-sensing nuclear receptor (CXR).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Phosphatidylinositol 3-kinase and Ras/mitogen-activated protein kinase signaling pathways are required for the regulation of 5-aminolevulinate synthase gene expression by insulin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Heme mediates derepression of Maf recognition element through direct binding to transcription repressor Bach1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Nrf2, a Cap'n'Collar transcription factor, regulates induction of the heme oxygenase-1 gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Regulation by heme of mitochondrial protein transport through a conserved amino acid motif

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Activation of the human mitochondrial transcription factor A gene by nuclear respiratory factors: a potential regulatory link between nuclear and mitochondrial gene expression in organelle biogenesis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Treatment of porphyria cutanea tarda by the effect of chloroquine on the liver

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Induction of heme oxygenase-1 gene expression by lipopolysaccharide is mediated by AP-1 activation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Identification of a second region upstream of the mouse heme oxygenase-1 gene that functions as a basal level and inducer-dependent transcription enhancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

A comparative trial of desferrioxamine and hydroxychloroquine for treatment of porphyria cutanea tarda in alcoholic patients.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Treatment of porphyria cutanea tarda with chloroquine.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Mechanism of iron potentiation of hepatic uroporphyria: studies in cultured chick embryo liver cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Erythropoietic protoporphyria and iron therapy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Hepatitis C virus and porphyria cutanea tarda: evidence of a strong association

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Acute Intermittent Porphyria: Clinical and Selected Research Aspects

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Hereditary hepatic porphyrias in Finland

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

The weight loss elicited by cobalt protoporphyrin is related to decreased activity of nitric oxide synthase in the hypothalamus

8 July 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

Prolonged retention of the anorectic cobalt protoporphyrin in the hypothalamus and the resulting expression of Fos.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

Fast track to the porphyrias

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

Nuclear receptors constitutive androstane receptor and pregnane X receptor activate a drug-responsive enhancer of the murine 5-aminolevulinic acid synthase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

Heme oxygenase-1 gene promoter polymorphism is associated with coronary artery disease in Japanese patients with coronary risk factors

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

Shorter GT repeats in the heme oxygenase-1 gene promoter are associated with a lower severity score in coronary artery disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

Diagnosis and management of hemochromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria.

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

Liver cirrhosis in erythropoietic protoporphyria: improvement of liver function with ursodeoxycholic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FMETABO4040977

Liver transplantation for acute intermittent porphyria: a viable treatment?

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Porphyria in Switzerland, 15 years experience

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Hepatocellular carcinoma risk in patients with porphyria cutanea tarda

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Acute intermittent porphyria in childhood: a population-based study

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

Microsatellite polymorphism in promoter of heme oxygenase-1 gene is associated with susceptibility to coronary artery disease in type 2 diabetic patients

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4279155

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

26 October 2018

1 reference

12 December 2020

Acute intermittent porphyria: a study of 50 cases

1 reference

12 December 2020

Erythropoietic protoporphyria exacerbated by oral iron therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Reconstitution of hematin for intravenous infusion

1 reference

12 December 2020

Porphyrin content of bone marrow and liver in the various forms of porphyria

1 reference

12 December 2020

Treatment of porphyria cutanea tarda by phlebotomy

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

Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda

1 reference

12 December 2020

1 reference

12 December 2020

Bone marrow transplantation improves symptoms of congenital erythropoietic porphyria even when done post puberty

1 reference

12 December 2020

[Liver cirrhosis and chronic hepatic porphyria]

1 reference

12 December 2020

The "glucose effect" in acute hepatic porphyrias and in experimental porphyria

1 reference

12 December 2020

The porphyrias as inborn errors of metabolism

1 reference

12 December 2020

The porphyrias: advances in diagnosis and treatment

1 reference

12 December 2020

Porphyria cutanea tarda

1 reference

12 December 2020

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene

1 reference

12 December 2020

Ursodesoxycholic acid and heme-arginate are unable to improve hematopoiesis and liver injury in an erythropoietic protoporphyria mouse model

1 reference

12 December 2020

Genetic variations in heme oxygenase-1 and chronic hepatitis

1 reference

12 December 2020

Porphyric neuropathy and hereditary delta-aminolevulinic acid dehydratase deficiency in an adult

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.3390/METABO4040977

1 reference

4 August 2017

1 reference

4 August 2017

1 reference

PubMed ID

25372274