Brain DisordersBackground: Acute hepatic porphyrias are heme metabolism disorders presenting with a broad clinical spectrum, including neurovisceral manifestations. Peripheral neuropathy is one of the most frequent complications in porphyrias and can correspond about ...
Lucas Grobério Moulim de Moraes +8 more
doaj +2 more sources
A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria. [PDF]
Liver IntABSTRACT Background and Aims This study aimed to characterise symptoms and assess the prevalence of elevated urine porphyrin precursors in first‐degree relatives of acute hepatic porphyria (AHP) patients who have never experienced acute attacks and had no previous AHP genetic or biochemical testing.
Merati M +11 more
europepmc +2 more sources
Neurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria. [PDF]
CureusFatima I +4 more
europepmc +2 more sources
Practical recommendations for biochemical and genetic diagnosis of the porphyrias [PDF]
Liver International, Volume 45, Issue 3, March 2025.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 ...
Aarsand, Aasne Karine +4 more
core +2 more sources
Acute hepatic porphyria in Denmark; a retrospective study [PDF]
Orphanet Journal of Rare DiseasesBackground Acute hepatic porphyria (AHP) constitutes a class of rare diseases caused by reduced function in enzymes of the heme-biosynthetic pathway. AHP includes acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria ...
Magnus Emil Ulrich Wagner +2 more
doaj +2 more sources
Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient. [PDF]
Intern Med, 2016 Susa S +12 more
europepmc +3 more sources
Swiss patients with variegate porphyria have unique mutations
Swiss Medical Weekly, 2006 X Schneider-Yin, EI Minder
doaj +2 more sources
Haplotype Study in Argentinean Variegate Porphyria Patients [PDF]
Human Heredity, 2015 <b><i>Background/Aims:</i></b> The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042_1043insT stands out, since it was described only in Argentina and is present in about 40% of genetically ...
Granata, Bárbara Xoana +3 more
openaire +4 more sources
Bile Porphyrin Analysis in the Evaluation of Variegate Porphyria [PDF]
New England Journal of Medicine, 1991 George M. Logan +4 more
openalex +3 more sources
Homozygous variegate porphyria: an evolving clinical syndrome [PDF]
Postgraduate Medical Journal, 1993 Summary Variegate porphyria is one of the most frequently encountered genetic conditions in South Africa. It is inherited as an autosomal dominant disease and in excess of 300 heterozygous cases have been studied by the Cape Town unit. Despite this, the homozygous condition has not previously been encountered in South Africa.
R J, Hift +7 more
openaire +4 more sources