Results 1 to 10 of about 1,371 (158)

Cord blood porphyrin analysis in neonates at risk of inheriting protoporphyria: An observational cohort study. [PDF]

Br J Haematol
British Journal of Haematology, Volume 207, Issue 3, Page 1148-1151, September 2025.
Schulenburg-Brand D, Peek R, Bentley L, Swingler R, Pavlova YT, Dawe RS, McGuire VA.   +6 more
europepmc   +2 more sources

Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review. [PDF]

Orphanet J Rare Dis
Background Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase.
Xiong H, He S, Yang Z, Zheng R, Yu H.
europepmc   +2 more sources

Blocking extracellular glycine uptake mediated by GlyT1 mitigates protoporphyria. [PDF]

J Clin Invest
Liesa M.
europepmc   +1 more source

Impact of delay in diagnosis in patients with erythropoietic protoporphyria: A cross-sectional survey study. [PDF]

JAAD Int
Tran B, Raef H, Rebeiz L, Wheeden K, Elmariah SB, Anderson KE, Leaf RK, Naik H, Dickey AK.   +8 more
europepmc   +1 more source

Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report. [PDF]

Front Med (Lausanne)
Yang T, Chen C, Li C, Wang J.
europepmc   +1 more source

New pharmacotherapies for the erythropoietic protoporphyrias: an analysis of trial protocols from a patient perspective. [PDF]

Orphanet J Rare Dis
Dechant C, Wäscher S, Granata F, Gusset N, Pettersson M, Aksözen MH, Höglinger M, Falchetto R, Barman-Aksözen J.   +8 more
europepmc   +1 more source

Glycine transport inhibitors for the treatment of chronic pain conditions: the time is ripe for clinical evaluation! [PDF]

Front Mol Neurosci
Eulenburg V, Cioffi CL, Roy A, Vandenberg RJ.   +3 more
europepmc   +1 more source

Isolated Solar Angioedema: A Rare Case Successfully Treated With Dapsone. [PDF]

Cureus
London MGH, Coleman BA, Herrick G, Evans J.   +3 more
europepmc   +1 more source

Of Zebrafish, Mice, and Men: Identifying New Biology and Developing New Treatments for Erythropoietic Protoporphyria. [PDF]

Cell Mol Gastroenterol Hepatol
Molleston JP, Jarasvaraparn C.
europepmc   +1 more source

Seen on screen, missed in clinic: educational pearls from <i>House M.D.</i> - a reflective educational article on fictional cases in dermatology. [PDF]

Skin Health Dis
Shanshal M.
europepmc   +1 more source