Porphyria
What's New
Last Posted: Aug 10, 2023
- Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
Akshata Moghe et al. Mol Genet Metab 2023 140(3) 107670 - siRNAs-A New Class of Medicines.
Anastasia Khvorova et al. JAMA 2023 6 - Brazilian registry of patients with porphyria: REBRAPPO study.
Paulo Victor Sgobbi Souza et al. Orphanet journal of rare diseases 2023 18(1) 49 - Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Lefever Stefanie et al. Journal of inherited metabolic disease 2022 - Givosiran for the treatment of acute hepatic porphyria.
Ricci Andrea et al. Expert review of clinical pharmacology 2022 1-11 - Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.
Buendía-Martínez Juan et al. Orphanet journal of rare diseases 2021 16(1) 106 - Penetrance and predictive value of genetic screening in acute porphyria.
Baumann K et al. Molecular genetics and metabolism 2020 Feb - First gene silencing drug offered on NHS
P Brice, PHG Foundaton, July 9, 2019 - A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Barman-Aksözen Jasmin et al. Scandinavian journal of clinical and laboratory investigation 2019 Jun 1-9 - CLINGEN Actionability Report for Acute Intermittent Porphyria - HMBS
ClinGen Actionability Working Group
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Microcephaly
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- Phenylketonuria
- Retinitis Pigmentosa
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- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 25, 2024
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