04139 Acquired congenital erythropoietic porphyria secondary to treatment for haematological malignancy

So, briefly, in 2022, of the 24 samples for porphyria request, we characterized 4 patients with porphyria.In 2023, of the 69 requests for porphyria, we characterized 12 patients with porphyria from the biochemical and molecular point of view.Last year, the National Authority of Medicines and Health Products, I.P. (INFARMED) approved the ribonucleic acid interference (RNAi) therapy (givosiran; GIVLAARI , Alnylam Pharmaceuticals, Cambridge, MA, USA).Porphyria exists, we just have to look for it!

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Published
2024-09-01
DOI
https://doi.org/10.1136/bmjgast-2024-icpp.60
Primary Topic
Porphyrin Metabolism and Disorders
Type
article
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04139 Acquired congenital erythropoietic porphyria secondary to treatment for haematological malignancy

Liezel Griffin, Amira Ibrahim, Saliha Haji, Denise Darby et al.
Porphyrin Metabolism and Disorders
article

04139 Acquired congenital erythropoietic porphyria secondary to treatment for haematological malignancy

Liezel Griffin, Amira Ibrahim, Saliha Haji, Denise Darby, John G. Gilman
article en

Abstract

So, briefly, in 2022, of the 24 samples for porphyria request, we characterized 4 patients with porphyria.In 2023, of the 69 requests for porphyria, we characterized 12 patients with porphyria from the biochemical and molecular point of view.Last year, the National Authority of Medicines and Health Products, I.P. (INFARMED) approved the ribonucleic acid interference (RNAi) therapy (givosiran; GIVLAARI , Alnylam Pharmaceuticals, Cambridge, MA, USA).Porphyria exists, we just have to look for it!

Northern Health and Social Care Trust (GB)
Good health and well-being
Openalex Percentile: Top 86%
Porphyrin Metabolism and Disorders
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