(Q84569566)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22791288%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

The porphyrias: advances in diagnosis and treatment (English)

1 reference

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7 February 2020

2

Robert J Desnick

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7 February 2020

author name string

Manisha Balwani

series ordinal

1

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7 February 2020

publication date

12 July 2012

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7 February 2020

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7 February 2020

volume

120

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7 February 2020

issue

23

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7 February 2020

page(s)

4496-4504

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Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency

7 February 2020

cites work

1 reference

12 December 2020

Congenital erythropoietic porphyria: advances in pathogenesis and treatment

1 reference

12 December 2020

AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital erythropoietic porphyria

1 reference

12 December 2020

The Human Gene Mutation Database: 2008 update

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12 December 2020

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

1 reference

12 December 2020

Structure and function of enzymes in heme biosynthesis.

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12 December 2020

Acquired erythropoietic protoporphyria.

1 reference

12 December 2020

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

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12 December 2020

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

1 reference

12 December 2020

Reversion of hepatobiliary alterations By bone marrow transplantation in a murine model of erythropoietic protoporphyria

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12 December 2020

Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions

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12 December 2020

Molecular Regulation of Heme Biosynthesis in Higher Vertebrates

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12 December 2020

Liver transplantation as a cure for acute intermittent porphyria

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12 December 2020

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

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12 December 2020

Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria

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12 December 2020

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

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12 December 2020

Combined liver and kidney transplantation in acute intermittent porphyria

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12 December 2020

Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis.

1 reference

12 December 2020

A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria.

1 reference

12 December 2020

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

1 reference

12 December 2020

Hepatitis C, porphyria cutanea tarda and liver iron: an update

1 reference

12 December 2020

Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria

1 reference

12 December 2020

Hepatic porphyrias in children

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12 December 2020

The liver in protoporphyria

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12 December 2020

Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias

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12 December 2020

Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics

1 reference

12 December 2020

Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)

1 reference

12 December 2020

CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda

1 reference

12 December 2020

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

1 reference

12 December 2020

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

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12 December 2020

Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria

1 reference

12 December 2020

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

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12 December 2020

Successful gene therapy of mice with congenital erythropoietic porphyria

1 reference

12 December 2020

Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature

1 reference

12 December 2020

Porphyrins, porphyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda--suggestions for a handling programme

1 reference

12 December 2020

Acute porphyrias: pathogenesis of neurological manifestations

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12 December 2020

Liver transplantation for erythropoietic protoporphyria liver disease.

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12 December 2020

Recommendations for the diagnosis and treatment of the acute porphyrias

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12 December 2020

A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.

1 reference

12 December 2020

10.1182/BLOOD-2012-05-423186

Identifiers

DOI

1 reference

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7 February 2020

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7 February 2020

PubMed publication ID

22791288

1 reference