Results 101 to 110 of about 27,170 (181)

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance

, 2009
Erythropoietic protoporphyria (EPP) is an inherited disorder that results from partial deficiency of ferrochelatase (FECH). It is characterized clinically by acute photosensitivity and, in 2% of patients, liver disease.
Davies, Nicholas, Ead, Russell D, Ackroyd, R Simon, Whatley, Sharon D., Farr, Peter M., Anstey, Alexander V, Roberts, Andrew Glyn, Whatley, Sharon D, Stewart, M. Felicity, Badminton, Michael N, Elder, George H., Farr, Peter M, Ackroyd, R. Simon, Holme, S Alexander, Elder, George H, Stewart, M Felicity, Roberts, Andrew G, Lewis, Helen M, Lewis, Helen M., Badminton, Michael Norman, White, Marion I., Holme, S. Alexander, White, Marion I, Anstey, Alexander Vincent, Ead, Russell D.   +24 more
core   +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

Understanding the Clinical Spectrum of the Cutaneous and Acute Hepatic Porphyrias. [PDF]

Am J Clin Dermatol
Vu TN, Talasila S, Jeha GM, Nadir U, Mohammad TF, Lim HW, Abraham I, Grove D, Tolkachjov SN.   +8 more
europepmc   +1 more source

Epidermal growth factor receptor ligands in murine models for erythropoietic protoporphyria: potential novel players in the progression of liver injury

, 2009
Activation of the epidermal growth factor receptor (EGFR) plays an important role in liver regeneration and resistance to acute injury. However its chronic activation participates in the progression of liver disease, including fibrogenesis and malignant ...
Corrales, F.J. (Fernando José), Avila, M.A. (Matías Antonio), Enriquez-de-Salamanca, R. (Rafael), Latasa, M.U. (María Ujué), Berasain, C. (Carmen), Garcia-Bravo, M. (M.), Unzu, C. (Carmen), Mauleon, I. (Itsaso), Goñi, S. (Saioa), Prieto, J. (Jesús), Matscheko, N. (N.), Sampedro, A. (Ana), Fontanellas-Romá, A. (Antonio)   +12 more
core  

Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria. [PDF]

Mol Genet Metab Rep
Wang C, Bensaber N, Rebeiz L, Tran B, Tortorelli S, Kyle K, Yalom LK, Moghe A, Anderson KE, Leaf RK, Yeung AK.   +10 more
europepmc   +1 more source

04107 The EPP LIGHT Study: understanding the burden of erythropoietic protoporphyria (EPP) from the patient perspective

Poster 22
Hetanshi Naik, Kristen Wheeden, Susan D Mathias, Chelsea Norregaard, Hilary H Colwell, Melanie Chin, William Savage, Manisha Balwani   +7 more
openaire   +1 more source

Congenital erythropoietic porphyria (Günther disease): A rare case of early-onset photosensitivity and erythrodontia in an infant. [PDF]

JAAD Case Rep
Sharma R, Garg S, Sud K, Vardhan H.
europepmc   +1 more source

04109 The impact of erythropoietic protoporphyria (EPP) on family quality of life

Poster 61
LL Griffin, R Sarkany, D Schulenburg-Brand, C Rowland, LE Rhodes, MD Farrar   +5 more
openaire   +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

04191 Inhibition of glycine transporter 1 reduces EPP phototoxicity in a mouse model of erythropoietic protoporphyria (EPP)

Poster 1
Yi Xiang, Yue Chen, Scott Reisman, Srikanth Venkatraman, Hua Yang, Brian MacDonald, Min Wu   +6 more
openaire   +1 more source