Results 91 to 100 of about 31,642 (216)

European Specialist Porphyria Laboratories: Diagnostic Strategies, Analytical Quality, Clinical Interpretation, and Reporting As Assessed by an External Quality Assurance Program [PDF]

, 2011
Aasne K. Aarsand, Jørild Haugen Villanger, Egil Støle, Jean‐Charles Deybach, Joanne Marsden, Jordi To‐Figueras, Mike Badminton, George H. Elder, Sverre Sandberg   +8 more
openalex   +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

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 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

Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria.

Advances in Clinical and Experimental Medicine, 2016
Porphyrias are diverse disorders that arise from various inherited enzyme defects in the heme biosynthesis pathway, except for porphyria cutanea tarda (PCT), in which the enzyme deficiency in most cases is acquired. The biosynthetic blocks resulting from
U. Szlendak, K. Bykowska, A. Lipniacka
semanticscholar   +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

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

Molecular study of the hydroxymethlybilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria [PDF]

, 2002
A Gregor, Xiaoye Schneider‐Yin, Urszula Szlendak, A. Wettstein, Agnieszka Lipniacka, Urszula B. Rüfenacht, Elisabeth I. Minder   +6 more
openalex   +1 more source

Porphyrin Excretion in a Patient with Delayed Light-sensitive Porphyria [PDF]

, 1954
A. Benson, W. D. Foster, F. T. G. Prunty
openalex   +1 more source

PORPHYRIA CUTANEATARDA: A CASE REPORT

, 2023
H. Kerrouch E. El Bakali
openalex   +1 more source