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This article was published in the following journal.
Name: Journal of the American Academy of Dermatology
Erythropoietic protoporphyria is caused by a partial deficiency of ferrochelatase, which is the last enzyme in the heme biosynthesis pathway. In a typical erythropoietic protoporphyria, photosensitivi...
The inborn errors of heme biosynthesis, the Porphyrias, include eight major disorders resulting from loss-of-function (LOF) or gain-of-function (GOF) mutations in eight of the nine heme biosynthetic g...
Good clinician-patient communication is essential to provide quality health care and key to patient-centered care. However, individuals and organizations seeking to improve in this area face significa...
Consultation amongst providers is a foundation of modern health care and one of the most frequent means of interdisciplinary communication. Accordingly, clear and efficient communication between provi...
OBJECTIVES: I. Determine the long-term efficacy and safety of L-cysteine in the prevention photosensitivity in patients with erythropoietic protoporphyria.
The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of the erythropoietic protoporphyrias, including autosomal recessive Eryt...
OBJECTIVES: I. Determine the efficacy of cysteine hydrochloride in preventing or decreasing photosensitivity in patients with erythropoietic protoporphyria.
The purpose of the study is to evaluate the effect of exercise and heat on the light sensibility of patients with erythropoietic protoporphyria
Background: Erythropoietic protoporphyria (EPP) is characterized by development of painful skin symptoms upon exposure to visible light dye to accumulation of the photoactive substance pro...
A carotenoid that is a precursor of VITAMIN A. It is administered to reduce the severity of photosensitivity reactions in patients with erythropoietic protoporphyria (PORPHYRIA, ERYTHROPOIETIC). (From Reynolds JEF(Ed): Martindale: The Extra Pharmacopoeia (electronic version). Micromedex, Inc, Engewood, CO, 1995.)
An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.
A mitochondrial enzyme found in a wide variety of cells and tissues. It is the final enzyme in the 8-enzyme biosynthetic pathway of HEME. Ferrochelatase catalyzes ferrous insertion into protoporphyrin IX to form protoheme or heme. Deficiency in this enzyme results in ERYTHROPOIETIC PROTOPORPHYRIA.
Sterile solutions, essentially free from foreign particles and suitably compounded and dispensed, for instillation into the eye. It does not include solutions for cleaning eyeglasses or CONTACT LENS SOLUTIONS. (From Dorland, 27th ed)
Providing the patient, family or others information, and then allowing them to take an action or restate the information in their own words. The clinician prefaces communications with a statement framed to show the clinician has the burden of effective communication rather than the patient.