Results 11 to 20 of about 13,719 (226)
Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services [PDF]
Orphanet Journal of Rare Diseases, 2012 Background The porphyrias are a heterogeneous group of rare metabolic diseases. The full spectrum of porphyria diagnostics is usually performed by specialized porphyria laboratories or centres.
Tollånes Mette C +7 more
doaj +2 more sources
Porphyria cutanea tarda and Sjogren's syndrome [PDF]
Anais Brasileiros de Dermatologia, 2014 Porphyria cutanea tarda is prevalent in connective tissue disease, common in systemic lupus erythematosus. However, the co-existence of primary sjogren's syndrome and porphyria cutanea tarda is rare and poses diagnostic and therapeutic challenges.
Su Fang +4 more
doaj +2 more sources
Journal of Medical Case Reports, 2022 Background Prompt diagnosis of metabolic disorders in a resource-limited country like Nepal is daunting. Acute intermittent porphyria is a rare but common hepatic porphyria mostly seen in females of the reproductive age group.
Sujata Baidya +10 more
doaj +2 more sources
Porphyria cutanea tarda in a HIV- positive patient [PDF]
Anais Brasileiros de Dermatologia, 2016 : This is a case report about Porphyria cutanea tarda (PCT) and its relationship with the infection caused by the human immunodeficiency virus (HIV). Cutaneous porphyria is an illness caused by enzymatic modification that results in partial deficiency of
Valéria Aparecida Zanela Franzon +3 more
doaj +3 more sources
Drug-associated porphyria: a pharmacovigilance study
Orphanet Journal of Rare DiseasesBackground The potentially fatal attacks experienced by porphyria carriers are triggered by various porphyrinogenic drugs. However, determining the safety of particular drugs is challenging. Methods We retrospectively used the U.S.
Qi Wang +4 more
doaj +2 more sources
Nonconvulsive status epilepticus secondary to acute porphyria crisis
Epilepsy and Behavior Case Reports, 2019 Both variegate and acute intermittent porphyria can manifest with various neurological symptoms. Although acute symptomatic seizures have been previously described, they are typically tonic–clonic and focal impaired awareness seizures.
Sara Dawit +7 more
doaj +2 more sources
A Rare Clinical Presentation of Variegate Porphyria. [PDF]
Mol Genet Genomic MedWGS redirected the diagnostic focus, underscoring the complex interplay between porphyria and a potential MYMK‐related neuromuscular phenotype. ABSTRACT Background Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the PPOX gene.
Viakhireva I +5 more
europepmc +2 more sources
Acute Intermittent Porphyria Triggered by COVID-19 Mimicking Guillain-Barré Syndrome: A Diagnostic Challenge. [PDF]
Clin Case RepABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Sadeghi P +5 more
europepmc +2 more sources
Acute Hepatic Porphyria – Minireview [PDF]
, 2023 Acute Hepatic Porphyria (AHP) is an uncommon and hereditary illness that belongs to a group of disorders known as porphyries. This condition results from a deficiency of the porphobilinogen deaminase enzyme, which plays a role in heme production, a ...
Aida SAVU, Lucian NEGREANU, Andrei EDU
core +1 more source
Porphyrias associated with malignant tumors: Results of treatment with ionizing irradiation [PDF]
, 2001 Background: Porphyrin metabolism disorders, known as porphyria, represent inherited or acquired diseases. The development of porphyria due to light sensibility occurs especially with exposure to wavelengths in the range of 300-700 nm.
Panzer, M. +9 more
core +1 more source