Best practice guidelines on first-line laboratory testing for porphyria. (Q50592268)

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21 March 2020

title

Best practice guidelines on first-line laboratory testing for porphyria (English)

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21 March 2020

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Mary Felicity Stewart

7

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21 March 2020

author name string

Jacqueline Woolf

1

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21 March 2020

Joanne T Marsden

2

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21 March 2020

Timothy Degg

3

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21 March 2020

Sharon Whatley

4

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21 March 2020

Paul Reed

5

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21 March 2020

Nadia Brazil

6

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Michael Badminton

8

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publication date

19 January 2017

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Annals of Clinical Biochemistry

21 March 2020

published in

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21 March 2020

volume

54

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21 March 2020

issue

2

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21 March 2020

page(s)

188-198

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Recommendations for the diagnosis and treatment of the acute porphyrias

21 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0004563216667965

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Identifying acute porphyria in patients with acute polyneuropathy or encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0004563216667965

Best practice guidelines on clinical management of acute attacks of porphyria and their complications

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0004563216667965

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0004563216667965

X-linked dominant protoporphyria: a new porphyria

21 January 2018

1 reference

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Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard

21 January 2018

1 reference

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Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria

21 January 2018

1 reference

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European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program

21 January 2018

1 reference

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Reliability of the porphobilinogen screening assay

21 January 2018

1 reference

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21 January 2018

1 reference

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Rapid quantitative method using spin columns to measure porphobilinogen in urine

21 January 2018

1 reference

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Hereditary tyrosinemia and the heme biosynthetic pathway. Profound inhibition of delta-aminolevulinic acid dehydratase activity by succinylacetone

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1177/0004563216667965

1 reference

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21 March 2020

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