Literature DB >> 11429419

ACP Best Practice No 165: front line tests for the investigation of suspected porphyria.

A C Deacon1, G H Elder.   

Abstract

The porphyrias are uncommon disorders of haem biosynthesis and their effective management requires prompt and accurate diagnosis. This article describes methods for the determination of urinary porphobilinogen, urinary and faecal total porphyrins, and total porphyrins in erythrocytes and plasma that are suitable for use in non-specialist laboratories. The selection and interpretation of these methods, and the indications for further, more specialised, investigation are discussed.

Mesh：

Substances：

Year:  2001        PMID： 11429419      PMCID： PMC1731474          DOI： 10.1136/jcp.54.7.500

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


  23 in total

1.  Plasma porphyrins in the porphyrias.

Authors:  J T Hindmarsh; L Oliveras; D C Greenway
Journal:  Clin Chem       Date:  1999-07       Impact factor: 8.327

2.  BIOCHEMICAL AND FLUORESCENCE-MICROSCOPY SCREENING-TESTS FOR ERYTHROPOIETIC PROTOPORPHYRIA.

Authors:  C RIMINGTON; D J CRIPPS
Journal:  Lancet       Date:  1965-03-20       Impact factor: 79.321

3.  The occurrence and determination of delta-amino-levulinic acid and porphobilinogen in urine.

Authors:  D MAUZERALL; S GRANICK
Journal:  J Biol Chem       Date:  1956-03       Impact factor: 5.157

4.  Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.

Authors:  S D Whatley; J R Woolf; G H Elder
Journal:  Hum Genet       Date:  1999-06       Impact factor: 4.132

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

Authors:  A C Deacon; T J Peters
Journal:  Ann Clin Biochem       Date:  1998-11       Impact factor: 2.057

6.  Increased fecal porphyrins in acute intermittent porphyria.

Authors:  E Rossi
Journal:  Clin Chem       Date:  1999-02       Impact factor: 8.327

7.  Free erythrocyte porphyrins in the detection of undue absorption of Pb and of Fe deficiency.

Authors:  S Piomelli
Journal:  Clin Chem       Date:  1977-02       Impact factor: 8.327

8.  Bullous dermatoses in end-stage renal failure: porphyria or pseudoporphyria?

Authors:  P Glynne; A Deacon; D Goldsmith; C Pusey; E Clutterbuck
Journal:  Am J Kidney Dis       Date:  1999-07       Impact factor: 8.860

9.  A plasma porphyrin fluorescence marker for variegate porphyria.

Authors:  M B Poh-Fitzpatrick
Journal:  Arch Dermatol       Date:  1980-05

10.  Rapid procedure for fecal porphyrin assay.

Authors:  W H Lockwood; V Poulos; E Rossi; D H Curnow
Journal:  Clin Chem       Date:  1985-07       Impact factor: 8.327
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  23 in total

1.  Electronic publishing and internet learning.

Authors:  P J van Diest; H Holzel; M Reid; M Crook; G Spickett
Journal:  J Clin Pathol       Date:  2002-12       Impact factor: 3.411

2.  Regional Variation in Analytical Techniques used in the Diagnosis and Monitoring of Porphyria: a Case for Harmonisation?

Authors:  Christiaan W Sies; Virginia Cronin; Christopher M Florkowski; Jan Gill; Janine Grant; Victor Poulos; John Zoanetti
Journal:  Clin Biochem Rev       Date:  2015-05

3.  Hereditary coproporphyria: comparison of molecular and biochemical investigations in a large family.

Authors:  K R Allen; S D Whatley; T J Degg; J H Barth
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

4.  Anxiety and depression in the acute porphyrias.

Authors:  L M Millward; P Kelly; A King; T J Peters
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

5.  Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria.

Authors:  Pauline Harper; Staffan Wahlin
Journal:  Curr Treat Options Gastroenterol       Date:  2007-12

Review 6.  Current applications of therapeutic phlebotomy.

Authors:  Tarek Bou Assi; Elizabeth Baz
Journal:  Blood Transfus       Date:  2013-10-03       Impact factor: 3.443

7.  66-year-old woman with painless vesicular lesions.

Authors:  Aditya Bardia; Elizabeth A Swanson; Kris G Thomas
Journal:  Mayo Clin Proc       Date:  2009-07       Impact factor: 7.616

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

Authors:  Sharon D Whatley; Sarah Ducamp; Laurent Gouya; Bernard Grandchamp; Carole Beaumont; Michael N Badminton; George H Elder; S Alexander Holme; Alexander V Anstey; Michelle Parker; Anne V Corrigall; Peter N Meissner; Richard J Hift; Joanne T Marsden; Yun Ma; Giorgina Mieli-Vergani; Jean-Charles Deybach; Hervé Puy
Journal:  Am J Hum Genet       Date:  2008-09-04       Impact factor: 11.025

9.  Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

Authors:  J To-Figueras; J D Phillips; J M Gonzalez-López; C Badenas; I Madrigal; E M González-Romarís; C Ramos; J M Aguirre; C Herrero
Journal:  Br J Dermatol       Date:  2011-08-18       Impact factor: 9.302

10.  Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).

Authors:  Sonya Dragneva; Monika Szyszka-Niagolov; Aneta Ivanova; Lyudmila Mateva; Rumiko Izumi; Yoko Aoki; Yoichi Matsubara
Journal:  JIMD Rep       Date:  2014-07-06
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