Results 101 to 110 of about 3,099 (193)

Erythropoietic protoporphyrias:Pathogenesis, diagnosis and management [PDF]

The erythropoietic protoporphyrias consist of three ultra-rare genetic disorders of the erythroid heme biosynthesis, including erythropoietic protoporphyria (EPP1), X-linked protoporphyria (XLEPP) and CLPX-protoporphyria (EPP2), which all lead to the ...
Barman-Aksözen, Jasmin, Kluijver, Louisa G., Langendonk, Janneke G., Minder, Anna Elisabeth, Minder, Elisabeth I.   +4 more
core   +1 more source

Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study [PDF]

, 2010
Mette Christophersen Tollånes, Aasne Karine Aarsand, Sverre Sandberg   +2 more
core   +1 more source

Clinical, biochemical, haematological and molecular epidemiology of erythropoietic protoporphyria: a United Kingdom cross-sectional study [PDF]

, 2011
This thesis concerns erythropoietic protoporphyria (EPP, MIM 177000), a rare photodermatosis with systemic complications which results from an inherited partial deficiency of ferrochelatase (FECH), the terminal enzyme of haem biosynthesis.
Holme, Stephen Alexander
core  

A promising new strategy for monitoring erythropoietic protoporphyria therapy [PDF]

, 2016
Dawe, Gog, Heerfordt, Holme, Lerche, Magnus, Norris, Poh-Fitzpatrick, Sarkany   +8 more
core   +2 more sources

The GLYT1 inhibitor bitopertin mitigates erythroid PPIX production and liver disease in erythroid protoporphyria

The Journal of Clinical Investigation
Erythropoietic protoporphyria (EPP) is a genetic disorder typically resulting from decreased ferrochelatase (FECH) activity, the last enzyme in heme biosynthesis.
Sarah Ducamp, Min Wu, Juan Putra, Dean R. Campagna, Yi Xiang, Vu Hong, Matthew M. Heeney, Amy K. Dickey, Rebecca K. Leaf, Mark D. Fleming, Brian MacDonald, Paul J. Schmidt   +11 more
doaj   +1 more source

Clinical, pathological, and genetic study of three cases of erythropoietic protoporphyria diagnosed in childhood [PDF]

, 2017
journal ...
156, 159, 2822, 59947, 61059, 70224772, Kawashima, Hisashi, SUZUKI, Shinji, カワシマ, ヒサシ, スズキ, シンジ, 五百井, 寛明, 志村, 優, 河島, 尚志, 沼部, 博直, 鈴木, 慎二   +14 more
core  

Management of erythropoietic protoporphyria with cholestatic liver disease: A case report. [PDF]

Mol Genet Metab Rep, 2023
Poli A, Frieri C, Lefebvre T, Delforge J, Mirmiran A, Talbi N, Moulouel B, Six M, Paradis V, Parquet N, Puy H, Schmitt C, Aslangul E, de Fontbrune FS, Gouya L.   +14 more
europepmc   +1 more source

Development and content validation of a sunlight exposure diary in patients with erythropoietic protoporphyria. [PDF]

J Patient Rep Outcomes, 2023
Mathias SD, Burke L, Colwell HH, Mensing G, Savage W, Naik H.   +5 more
europepmc   +1 more source

Erythropoietic Protoporphyria [PDF]

, 2020
openaire   +2 more sources

Acute Protoporphyric Hepatopathy as the Initial Presentation of Erythropoietic Protoporphyria in Adulthood. [PDF]

ACG Case Rep J
Alsaleh T, Mohammed A, Karnam M, Roman T.   +3 more
europepmc   +1 more source