Results 11 to 20 of about 634 (79)

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

Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort [PDF]

Life
Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity.
Rebecca K. Leaf, Hetanshi Naik, Paul Y. Jiang, Sarina B. Elmariah, Pamela Hodges, Jennifer Mead, John Trinidad, Behnam Saberi, Benny Tran, Sarah Valiante, Francesca Mernick, David E. Leaf, Karl E. Anderson, Amy K. Dickey   +13 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

Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]

J Inherit Metab Dis
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Veitia RA, Zschocke J, Birchler JA.
europepmc   +2 more sources

Practical recommendations for biochemical and genetic diagnosis of the porphyrias. [PDF]

Liver Int
Abstract The porphyrias are a group of rare inborn errors of metabolism associated with various clinical presentations and long‐term complications, making them relevant differential diagnoses to consider for many clinical specialities, especially hepatologists, gastroenterologists and dermatologists.
Aarsand AK, To-Figueras J, Whatley S, Sandberg S, Schmitt C.   +4 more
europepmc   +2 more sources

Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria [PDF]

Journal of the American Academy of Dermatology, 2023
Sarina B Elmariah
exaly   +2 more sources

How I treat erythropoietic protoporphyria and X-linked protoporphyria

Blood, 2023
Rebecca Leaf, Amy Dickey
exaly   +2 more sources

X‐chromosomal inactivation directly influences the phenotypic manifestation of X‐linked protoporphyria [PDF]

Clinical Genetics, 2016
Maria Domenica Cappellini, Silvia Fustinoni, Francesca Granata   +2 more
exaly   +2 more sources

Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management [PDF]

Molecular Genetics and Metabolism, 2019
Manisha Balwani
exaly   +2 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
Cynthia Levy, Manisha Balwani, Karl Anderson   +2 more
exaly   +2 more sources