Results 91 to 100 of about 3,279 (202)
Current and innovative emerging therapies for porphyrias with hepatic involvement
, 2019 Porphyrias are rare inherited disorders caused by specific enzyme dysfunctions in the haem synthesis pathway, which result in abnormal accumulation of specific pathway intermediates.
Avila, M.A. (Matías Antonio) +3 more
core
Comparative Study of Two Screening Tests for Urinary Porphyrins in the Diagnosis of Porphyrias
Siriraj Medical Journal, 2005 Objective: To evaluate the efficiency of two urinary porphyrins screening tests: routine fluorescent detection and semi quantitative spectrophotometric scanning.
Sarawut Junnu +5 more
doaj
Post- Partum Acute Intermittent Porphyria - A Case Report
The Indian Anaesthetists' Forum, 2010 Porphyrias are inherited disorders, each involving a specific enzyme in heme biosynthetic pathways. Acute intermittent porphyria, one of the hepatic porphyria is the most severe form of the disease, with gastrointestinal and neuropsychiatric ...
Gaurav Tomar +3 more
doaj
Understanding the Clinical Spectrum of the Cutaneous and Acute Hepatic Porphyrias. [PDF]
Am J Clin DermatolVu TN +8 more
europepmc +1 more source
Updates to gene-disease classifications and inheritance patterns for porphyrias. [PDF]
Mol Genet MetabReeves EB +8 more
europepmc +1 more source