Latest Publications and Research on Porphyria

J Med Econ  2020 Jan 30  

Real world annualized healthcare utilization and expenditures among insured US patients with acute intermittent porphyria (AIP) treated with hemin.

Blaylock B, Epstein J, Stickler P

Patients with acute intermittent porphyria (AIP) may suffer from acute non-specific attacks that often result in hospitalizations or emergency room vi... Read More

Source: PubMed


Clin. Pharmacol. Ther.  2020 Jan 29  

Pharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid (siRNA), Givosiran, in Patients with Acute Hepatic Porphyria.

Agarwal S, Simon AR, Goel V, Habtemariam BA, Clausen VA, Kim JB, Robbie GJ

Givosiran is a small interfering ribonucleic acid agent that was recently approved in the US for the treatment of acute hepatic porphyria (AHP). This ... Read More

Source: PubMed

Am. J. Hematol.  2020 Jan 28  

Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model.

Schmidt PJ, Hollowell ML, Fitzgerald K, Butler JS, Fleming MD

Reduced ferrochelatase activity in erythropoietic protoporphyria (EPP) causes the accumulation of protoporphyrin IX (PPIX) leading to acute cutaneous ... Read More

Source: PubMed

BMJ Open    

Does chronic hyperglycaemia increase the risk of kidney stone disease? results from a systematic review and meta-analysis.

Geraghty R, Abdi A, Somani B, Cook P, Roderick P

Systematic review and meta-analysis of observational studies was performed using Preferred Reporting Items for Systematic Reviews and Meta-Analyses gu... Read More

Source: PubMed

Prog Mol Biol Transl Sci    

Porphobilinogen synthase: An equilibrium of different assemblies in human health.

Jaffe EK

Porphobilinogen synthase (PBGS) is an essential enzyme that catalyzes an early step in heme biosynthesis. An unexpected human PBGS quaternary structur... Read More

Source: PubMed

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