Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria-Reference-Cited by-同舟云学术

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Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria

Published:2018-04 Issue: Volume:479 Page:1-6
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Lin Chia-Ni,Huang Ya-Ching,Ro Long-Sun,Liao Ming-Feng,Ning Hsiao-Chen,Kuo Hung-Chou

Funder

Chang Gung Memorial Hospital

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference14 articles.

1. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families;Kauppinen;Clin. Chem.,2002

2. Human erythroid porphobilinogen deaminase exists in 2 splice variants;Gubin;Blood,2001

3. Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria;Puy;Am. J. Hum. Genet.,1997

4. HMBS mutations in Chinese patients with acute intermittent porphyria;Yang;Ann. Hum. Genet.,2008

5. A red cell enzyme method for the diagnosis of acute intermittent porphyria;Magnussen;Blood,1974

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1. Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene;Frontiers in Genetics;2023-11-20

2. Prophylactic Heme Arginate Infusion for Acute Intermittent Porphyria;Frontiers in Pharmacology;2021-10-06

3. Laboratory Diagnosis of Porphyria;Diagnostics;2021-07-26

4. Potential Urinary Biomarkers of Young Adults With Short-Term Co-Exposure to Particulate Matter and Bioaerosols in a Time Course Identified by an Unbiased Metabolomic Approach With Gas/Liquid Chromatography–Mass Spectroscopy;SSRN Electronic Journal;2021

5. Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families;Annals of Hematology;2019-11-19

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