Results 71 to 80 of about 11,248 (183)

A Propos D'une Forme Nerveuse Pure A Evolution Cyclique De Porphyrie Aigue [PDF]

Acta Medica Iranica, 1959
A case of acute porphyria with polynevrite is described. Evidence of porphyria has been formed in other members of the family.
Gharib, Zamani
doaj  

Psychiatric Symptoms in Acute Intermittent Porphyria - Case Report and Course of Treatment Using Placebo

Journal of Education, Health and Sport
Introduction: Acute intermittent porphyria is a disease inherited in an autosomal dominant manner, occurring with a frequency of 1:75,000 people.
Waldemar Kosiba, Dominika Prystacka-Szar, Jakub Siemko, Wojciech Kupczak   +3 more
doaj   +1 more source

Early diagnosis of porphyria cutanea tarda as a key to avoiding scarring – a mild form of the disease

Przegląd Dermatologiczny, 2019
Porphyria cutanea tarda belongs to the group of porphyrias. Porphyria is a heme disorder caused by an acquired or congenital defect of hepatic enzymes. This consequently leads to the accumulation of porphyrins in various organs.
Marcela Nowak, Dorota Mehrholz, Wioletta Barańska-Rybak, Roman Nowicki   +3 more
doaj   +1 more source

Acute Intermittent Porphyria in Childhood Presenting with Hypertensive Emergency and Posterior Reversible Encephalopathy Syndrome

Journal of Pediatric Critical Care, 2016
Acute intermittent porphyria is an inherited metabolic disease due to deficiency of the enzyme porphobilinogen deaminase that can affect the autonomic, peripheral and central nervous system.
Rishab Bharadwaj, Pallavi P Dagli, Aasheeta S Shah   +2 more
doaj   +1 more source

PB2354: THE IMPACT OF ACUTE HEPATIC PORPHYRIA ON MENTAL HEALTH: RESULTS FROM THE PORPHYRIA WORLDWIDE PATIENT EXPERIENCE RESEARCH (POWER) STUDY

HemaSphere, 2022
D. Nance, D. Lyon, S. Hegarty, R. Falchetto, J. Barman-Aksözen, J. E. Matos, S. Meninger, S. Lombardelli, A. Dickey   +8 more
doaj   +1 more source

Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]

Liaquat National Journal of Primary Care
A deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi, Ayesha Abdul Samad, Ayesha Jaka   +2 more
doaj   +1 more source

P1722: CHANGES IN ACUTE HEPATIC PORPHYRIA HEALTH IMPACTS SINCE INITIAL DIAGNOSIS: RESULTS FROM THE PORPHYRIA WORLDWIDE PATIENT EXPERIENCE RESEARCH (POWER) STUDY

HemaSphere, 2022
D. Nance, D. Lyon, S. Hegarty, R. Falchetto, J. Barman-Aksözen, T. Mnif, S. Meninger, S. Lombardelli, A. Dickey   +8 more
doaj   +1 more source

THE ACUTE PORPHYRIAS

International Journal of Clinical Practice, 1993
SUMMARYThe porphyrias are a heterogeneous group of rare inborn errors of metabolism caused by inherited enzyme defects in the haem biosynthetic pathway, resulting in overproduction of porphyrins. The porphyrias can be distinguished biochemically but may be difficult to differentiate clinically.
G Y, Lip, K E, McColl, M R, Moore
openaire   +2 more sources

Correction: Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study

Orphanet Journal of Rare Diseases, 2022
Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg, Mette Christophersen Tollånes   +3 more
doaj   +1 more source

A Propos D'une Forme Nerveuse Pure A Evolution Cyclique De Porphyrie Aigue

Acta Medica Iranica, 1959
A case of acute porphyria with polynevrite is described. Evidence of porphyria has been formed in other members of the family.
Gharib, Zamani
doaj