Results 101 to 110 of about 5,659 (182)

Erythropoietic protoporphyria clinical and epidemiological aspects

, 2010
Erythropoietic protoporphyria, EPP, is an inherited disease in which the main clinical manifestations are painful cutaneous sensitivity to intense light and liver disease which in some requires liver transplantation for survival.
Staffan Wahlin (2552248)
core   +1 more source

Bovine congenital erythropoietic protoporphyria in a crossbred limousin heifer in Ireland

An unusual case of an 11-month-old, black Limousin-cross heifer, with an 8-month history of episodic seizures and photosensitisation, was referred by a veterinary practitioner to the Farm Animal Section of the UCD Veterinary Hospital, School of ...
Doherty, Michael L., O'Neill, Henry, Badminton, Michael, McAloon, Conor G., Ryan, Eoin Gerard   +4 more
core   +1 more source

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

Acute on chronic liver failure in erythropoietic protoporphyria: A case report and review of the literature. [PDF]

Hepatol Forum
Viswanath A, Thomas RT, Kumar E S, Zachariah UG, Jose SK, Thomas M, Kodiatte TA.   +6 more
europepmc   +1 more source

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

Heme arginate improves acute liver failure secondary to erythropoietic protoporphyria: a case report. [PDF]

Front Med (Lausanne)
Ni H, Chen B, Huang A, Zhang T, Li H, Tang S.   +5 more
europepmc   +1 more source

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

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

Development and Content Validation of Novel Patient-Reported Outcome Measures to Assess Disease Severity and Change in Patients with Erythropoietic Protoporphyria: The EPP Impact Questionnaire (EPIQ)

Patient Related Outcome Measures
Susan D Mathias,1 Laurie Burke,2 Hilary H Colwell,1 George Mensing,3 Will Savage,3 Hetanshi Naik4 1Health Outcomes Solutions, Palm Beach Gardens, FL, USA; 2LORA Group, Normal, IL, USA; 3Disc Medicine, Watertown, MA, USA; 4Department of Genetics, Stanford
Mathias SD, Burke L, Colwell HH, Mensing G, Savage W, Naik H   +5 more
doaj