ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
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C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overloadAn update of clinical management of acute intermittent porphyriaDirect and simultaneous quantitation of 5-aminolaevulinic acid and porphobilinogen in human serum or plasma by hydrophilic interaction liquid chromatography-atmospheric pressure chemical ionization/tandem mass spectrometry.Ultra high-performance liquid chromatography of porphyrins.Direct and simultaneous determination of 5-aminolaevulinic acid and porphobilinogen in urine by hydrophilic interaction liquid chromatography-electrospray ionisation/tandem mass spectrometry.Liquid chromatography and mass spectrometry of haem biosynthetic intermediates: a review.Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life.Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites.66-year-old woman with painless vesicular lesions.Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.Current applications of therapeutic phlebotomy.Role of genetic testing in the management of patients with inherited porphyria and their families.Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met).Porphyria Cutanea Tarda in a Patient with End-Stage Renal Disease: A Case of Successful Treatment with Deferoxamine and Ferric Carboxymaltose.Regional Variation in Analytical Techniques used in the Diagnosis and Monitoring of Porphyria: a Case for Harmonisation?Dark age vampires or our poor patients.Congenital erythropoietic porphyria: two case reports.Electronic publishing and internet learning.Best practice guidelines on clinical management of acute attacks of porphyria and their complications.Melatonin and environmental lighting regulate ALA-S gene expression and So porphyrin biosynthesis in the rat harderian gland.Mass spectrometric characterisation of a condensation product between porphobilinogen and indolyl-3-acryloylglycine in urine of patients with acute intermittent porphyria.Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.Best practice guidelines on first-line laboratory testing for porphyria.Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria.
P2860
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P2860
ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
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2001 nî lūn-bûn
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2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած
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2001 թվականի հուլիսին հրատարակված գիտական հոդված
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2001年の論文
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2001年論文
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2001年論文
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2001年論文
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2001年論文
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2001年論文
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2001年论文
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ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
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ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
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ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
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ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
@ast
ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
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ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
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ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
@ast
ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
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ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
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P2860
P356
P1476
ACP Best Practice No 165: front line tests for the investigation of suspected porphyria
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P2093
P2860
P356
10.1136/JCP.54.7.500
P407
P577
2001-07-01T00:00:00Z