Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345

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Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345–2A>C)

Published:2024-09 Issue: Volume:15 Page:100160
ISSN:2666-4593
Container-title:Brain Disorders
language:en
Short-container-title:Brain Disorders

Author:

Lerusse Julien^ORCID,Dive Dominique,Wang François Charles

Publisher

Elsevier BV

Reference18 articles.

1. Seven novel mutations in bulgarian patients with acute hepatic porphyrias (AHP);Dragneva;JIMD. Rep.,2014

2. Porphyric neuropathy;Albers;Muscle Nerve,2004

3. 5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up;Gross;Clin. Chem.,1998

4. X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2;Wang;Ann. Transl. Med.,2020

5. Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France;Nordmann;J. Intern. Med.,1997

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