Results 11 to 20 of about 7,531,846 (135)

Erythropoietic Protoporphyria and X-Linked Protoporphyria: Pathophysiology, Genetics, Clinical Manifestations, and Management [PDF]

Molecular Genetics and Metabolism, 2019
Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the heme-biosynthetic pathway. EPP results from the partial deficiency of ferrochelatase, and XLP results from gain-of-function mutations in erythroid specific ALAS2.
Manisha Balwani
exaly   +5 more sources

Real-World Assessment of the Patient Profile, Clinical Characteristics, Treatment Patterns, and Outcomes Associated With Erythropoietic and X-Linked Protoporphyria [PDF]

Journal of Dermatology
Abstract Erythropoietic protoporphyria (EPP) and X‐linked protoporphyria (XLP) are rare genetic disorders. There are limited data regarding how these disorders are managed in real‐world settings. The aim of this study was to document the characteristics and treatment patterns among patients diagnosed with EPP or XLP in general real‐world settings in ...
Abigail Hitchens, Valerie Derrien Ansquer   +1 more
exaly   +3 more sources

Evidence-Based Consensus Guidelines for the Diagnosis and Management of Protoporphyria-Related Liver Dysfunction in Erythropoietic Protoporphyria and X-Linked Protoporphyria [PDF]

Hepatology, 2023
Cynthia Levy, Manisha Balwani, Karl E Anderson   +2 more
exaly   +4 more sources

Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-Linked Protoporphyria

JAMA Dermatology, 2017
Autosomal recessive erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses presenting with variable degrees of painful phototoxicity that markedly affects quality of life. The clinical variability, determinants of severity, and genotype/phenotype correlations of these diseases are not well characterized.To ...
Robert J. Desnick, Jessica R Overbey, Herbert L Bonkovsky   +2 more
exaly   +5 more sources

Genetic testing to distinguish X-linked protoporphyria from erythropoietic protoporphyria informed iron replacement therapy leading to reversal of severe protoporphyric hepatopathy [PDF]

Molecular Genetics and Metabolism Reports
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are cutaneous porphyrias characterized by excess protoporphyrin IX (PPIX), leading to photosensitivity and, in a minority of patients, progressive hepatobiliary injury.
Christopher D. Ma, Giuliana Arevalo, Siobán B. Keel, Cynthia Levy   +3 more
doaj   +2 more sources

Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria [PDF]

Molecular Medicine, 2013
X-linked protoporphyria (XLP) (MIM 300752) is a recently recognized erythropoietic porphyria due to gain-of-function mutations in the erythroid-specific aminolevulinate synthase gene (ALAS2).
David F. Bishop, Vassili Tchaikovskii, Irina Nazarenko, Robert J. Desnick   +3 more
doaj   +2 more sources

Validation of the sunlight exposure diary and the erythropoietic protoporphyria impact questionnaire (EPIQ) [PDF]

Orphanet Journal of Rare Diseases
Background Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders that can negatively affect one’s health-related quality of life (HRQoL) because of pain from phototoxic reactions and the avoidance of sun exposure that ...
Hetanshi Naik, Susan D. Mathias, Michelle P. Turner, Megan O’Grady, Chelsea Norregaard, Hilary H. Colwell, William Savage, Melanie Chin   +7 more
doaj   +2 more sources

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation

Scientific Reports
X-linked sideroblastic anemia (XLSA) is a hereditary disorder affecting heme biosynthesis, caused by mutations in the ALAS2 gene, which encodes the erythroid-specific enzyme 5-aminolevulinate synthase.
Daniel Jové-Solavera, Marta Rámila, Xènia Ferrer-Cortés, Mireia Olivella, Veronica Venturi, Marta Morado, Ines Hernández-Rodríguez, Aneal Khan, Santiago Pérez-Montero, Cristian Tornador, Ulrich Germing, Norbert Gattermann, Mayka Sanchez   +12 more
doaj   +2 more sources

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

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   +2 more sources

Erythropoietic protoporphyria [PDF]

Orphanet Journal of Rare Diseases, 2009
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Puy Hervé, Lecha Mario, Deybach Jean-Charles   +2 more
doaj   +2 more sources