Results 1 to 10 of about 2,252 (147)

The porphyrias

open access: yesSouth African Journal of Physiotherapy, 1968
No abstract available.
Geoffrey Dean
doaj   +4 more sources

Acute hepatic porphyrias for the neurologist: current concepts and perspectives [PDF]

open access: yesArquivos de Neuro-Psiquiatria, 2021
Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated
Paulo Victor Sgobbi de Souza   +5 more
doaj   +1 more source

Acute intermittent porphyria: A case report [PDF]

open access: yesVojnosanitetski Pregled, 2021
Introduction. Acute intermittent porphyria is a rare inherited metabolic disorder caused by a decreased level of porphobilinogen deaminase. Subsequent accumulation of by-products in neural elements causes a classic triad of abdominal pain, neurological ...
Vulović Tatjana   +3 more
doaj   +1 more source

Prophylactic heme arginate therapy in acute intermittent hepatic porphyria: A case report [PDF]

open access: yesVojnosanitetski Pregled, 2022
Introduction. Among the acute hepatic porphyrias, a small percentage of patients, predominantly female, present with recurrent cyclic attacks of acute intermittent porphyria that occur more than three times a year and sometimes at intervals of less than ...
Krnetić Žarko   +6 more
doaj   +1 more source

Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral

open access: yesActa Médica Portuguesa, 2023
Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates.
Luís Brito Avô   +10 more
doaj   +1 more source

Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay

open access: yesMetabolites, 2021
Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells.
Antoine Poli   +6 more
doaj   +1 more source

Iron in Porphyrias: Friend or Foe?

open access: yesDiagnostics, 2022
Iron is a trace element that is important for many vital processes, including oxygen transport, oxidative metabolism, cellular proliferation, and catalytic reactions. Iron supports these functions mainly as part of the heme molecule. Heme synthesis is an
Elena Buzzetti   +2 more
doaj   +1 more source

Severe neurologic manifestations in acute intermittent porphyria developed after spine surgery under general anesthesia: a case report [PDF]

open access: yesKorean Journal of Anesthesiology, 2014
Porphyrias are inherited metabolic disorders resulting from a specific enzyme defect in the heme biosynthetic pathway. Porphyrias are induced by various precipitants.
Eun Young Park   +6 more
doaj   +1 more source

Psychological Aspect and Quality of Life in Porphyrias: A Review

open access: yesDiagnostics, 2022
The World Health Organization (WHO) describes “health” as a state of physical, mental, and social well-being and not merely the absence of disease or infirmity.
Granata Francesca   +4 more
doaj   +1 more source

The influence of excessive alcohol consumption on the course and development of dermatoses

open access: yesЛечащий Врач, 2022
The spectrum of dermatoses associated with alcohol dependence syndrome is quite extensive. Ethanol and other components of alcoholic beverages affect the structure of the skin and blood vessels, impair immune function, increase the risk of exacerbation ...
A. F. Gatina, N. P. Teplyuk
doaj   +1 more source

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