Results 71 to 80 of about 1,365 (154)

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Molecular Medicine, 2013
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of-function mutations in the ferrochelatase (FECH) gene and gain-of-function ...
Manisha Balwani, Dana Doheny, David F. Bishop, Irina Nazarenko, Makiko Yasuda, Harry A. Dailey, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Lawrence Liu, Robert J. Desnick, The Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network   +13 more
doaj   +1 more source

Application and clinical efficacy of red blood cell therapeutic apheresis in erythropoietic protoporphyria and hereditary hemochromatosis

Zhongguo shuxue zazhi
[Objective] To explore the application and clinical efficacy of red blood cell therapeutic apheresis in erythropoietic protoporphyria (EPP) and hereditary hemochromatosis (HH).
LIU Haoqiang, ZHAO Caihan, YUAN Qing, XIE Lixia, ZOU Yong, LU Ying   +5 more
doaj   +1 more source

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

JAAD Case Reports, 2017
Megumi Mizawa, MD, PhD, Teruhiko Makino, MD, PhD, Fumina Furukawa, MD, Ryotaro Torai, MD, Hajime Nakano, MD, PhD, Daisuke Sawamura, MD, PhD, Tadamichi Shimizu, MD, PhD   +6 more
doaj   +1 more source

Erythropoietic protoporphyria patients in Slovenia.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica, 2007
There are only scarce epidemiological data on the prevalence of erythropoietic protoporphyria (EPP) in a given population. The aim of this study was to assess the prevalence of EPP within the Slovenian population.The patients were selected by routine examination of photosensitive patients and by studying hospital records.
Gorenjak, Maksimiljan, Kansky, Aleksej, Marko, Pij B., Miljković, Jovan, Povalej, Petra   +4 more
openaire   +3 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

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