Results 71 to 80 of about 7,531,846 (135)

A SPONTANEOUS MOUSE MODEL OF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY [PDF]

, 2011
the subject of the thesis research project, aims to characterize a murine model for spontaneous muscle pathology comparable to human "X-Linked Vacuolar myopathy with Excessive Autophagy (XMEA)".
Iovane, Valentina
core   +1 more source

The role of ClpX in erythropoietic protoporphyria

, 2018
Hemoglobin is an essential biological component of human physiology and its production in red blood cells relies upon proper biosynthesis of heme and globin protein.
Jacky Chung, Jared C. Whitman, Paw, Barry H., Chung, Jacky, Whitman, Jared C., Barry H. Paw   +5 more
core   +1 more source

Induction of Experimental Protoporphyria in Hairless Mice by Griseofulvin [PDF]

, 1988
To investigate whether or not protoporphyria can be induced in hairless mice, feed containing 0.5% griseofulvin (GF) was given to hairless Hos^ HR/De strain mice for two to four months.
Nonaka, Shigeo, Yoshida, Hikotaro, Watanabe, Masahisa, Nagato, Nori, Murayama, Fumio, Yamashita, Kazunori, Ohgami, Taro, Irifune, Hiroko   +7 more
core   +1 more source

Late-Onset X-Linked Dominant Protoporphyria: An Etiology of Photosensitivity in the Elderly [PDF]

Journal of Investigative Dermatology, 2013
Livideanu, Cristina Bulai, Ducamp, Sarah, Lamant, Laurence, Gouya, Laurent, Rauzy, Odile B., Deybach, Jean C., Paul, Carle, Puy, Hervé, Marguery, Marie C.   +8 more
openaire   +1 more source

X‐linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia [PDF]

British Journal of Haematology, 2015
Christoph Landefeld, Karim Kentouche, Bernd Gruhn, Thomas Stauch, Steve Rößler, Detlef Schuppan, Sharon D. Whatley, James F. Beck, Ulrich Stölzel   +8 more
openaire   +1 more source

Laparoscopic Cholecystectomy in a Patient with Erythropoietic Protoporphyria

, 2010
Erythropoietic protoporphyria (EPP) is an inherited defect in haem synthesis causing dangerous phototoxic reactions following exposure to wavelengths of light around 400nm. It can cause catastrophic post-operative complications following open surgery, in
Ian S Bailey, Thomas Roe
core  

Inter-laboratory survey of erythrocyte free protoporphyrin quantification - announcement of a pilot study [PDF]

, 2008
Stauch, Thomas, Vogeser, Michael, Mueller, Wilhelm   +2 more
core   +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

An adaptor for feedback regulation of heme biosynthesis by a mitochondrial protease. [PDF]

Science
Cottle T, Joh L, Posner C, DeCosta A, Campagna DR, Fleming MD, Ducamp S, Kardon JR.   +7 more
europepmc   +1 more source

Updates to gene-disease classifications and inheritance patterns for porphyrias. [PDF]

Mol Genet Metab
Reeves EB, Hankey W, Clair PS, Goldstein JL, Wilke MVMB, Feigenbaum A, Hung C, Spector E, Craigen WJ.   +8 more
europepmc   +1 more source