Results 11 to 20 of about 22,097 (228)
An overview of the cutaneous porphyrias [version 1; referees: 2 approved] [PDF]
F1000Research, 2017 This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
doaj +5 more sources
The Case of a 37-Year-Old Woman Presenting With Subacute Weakness and Paresthesias. [PDF]
Ann Clin Transl NeurolABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Pacut P, Cannon J, Dixit N, Fan Q.
europepmc +2 more sources
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. [PDF]
, 2020 PurposeAcute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that ...
Anderson, Karl E +14 more
core +1 more source
Lead Poisoning Revealed by Unexplained Abdominal Pain and Anemia in a Young Adult: A Diagnostic Challenge. [PDF]
Clin Case RepABSTRACT Lead poisoning should be considered in patients presenting with unexplained anemia and abdominal pain, even without clear environmental or occupational exposure. Recognizing classic signs such as Burton's line and basophilic stippling enables timely diagnosis and effective chelation therapy.
Eichler J, Albrecht S, Huber LC.
europepmc +2 more sources
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, 2022 SummaryThe porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic ...
Muschalek, Wiebke +3 more
openaire +3 more sources
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.
Dühmke, Eckhart +4 more
core +1 more source
Urinary porphyrin excretion in hepatitis C infection [PDF]
, 1999 A high prevalence of hepatitis C virus infection in porphyria cutanea tarda in some populations suggests a close link between viral hepatitis and alteration of porphyrin metabolism.
Jacob, Karl +2 more
core +1 more source
Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]
, 2019 The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant +40 more
core +1 more source
Evaluation of a commercially available rapid urinary porphobilinogen test [PDF]
, 2011 Background: Demonstration of substantially increased urinary excretion of porphobilinogen is the cornerstone of diagnosing acute porphyria crisis. Because porphobilinogen testing is not implemented on clinical chemistry analysers, respective analyses are
Buttery JE +4 more
core +1 more source
Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study
Orphanet Journal of Rare Diseases, 2020 Background Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population.
Carl Michael Baravelli +3 more
doaj +1 more source