Results 31 to 40 of about 36,453 (301)

Acute intermittent porphyria, givosiran, and homocysteine

Journal of Inherited Metabolic Disease, 2021
Acute intermittent porphyria (AIP) is a rare genetic metabolic disease caused by a specific enzyme dysfunction in the hepatic heme biosynthesis pathway.
A. Fontanellas, M. Avila, Elena Arranz, R. Enríquez de Salamanca, M. Morales-Conejo   +4 more
semanticscholar   +1 more source

Acute intermittent porphyria [PDF]

Postgraduate Medical Journal, 1967
These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California Medical Center, San Francisco. Taken from transcriptions, they are prepared by Drs. Martin J. Cline and Hibbard E. Williams, Assistant Professors of Medicine, under the direction of Dr. Lloyd H.
  +7 more sources

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

Orphanet Journal of Rare Diseases, 2021
Background Acute intermittent porphyria (AIP) is a genetic disease characterized by acute neurovisceral attacks. Long-term clinical conditions, chronic symptoms and impaired health related quality of life (HRQoL) have been reported during non-attack ...
Juan Buendía-Martínez, M. Barreda-Sánchez, L. Rodríguez-Peña, M. Ballesta-Martínez, V. López‐González, M. J. Sánchez-Soler, A. T. Serrano-Antón, M. E. Pérez-Tomás, Remedios Gil-Ferrer, F. Avilés-Plaza, G. Glover-López, Carmen Carazo-Díaz, E. Guillén-Navarro   +12 more
semanticscholar   +1 more source

High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach

Biomedicines, 2021
Acute porphyria attacks are associated with the strong up-regulation of hepatic heme synthesis and over-production of neurotoxic heme precursors. First-line therapy is based on carbohydrate loading.
I. Solares, L. Izquierdo-Sánchez, M. Morales-Conejo, Daniel Jericó, F. J. Castelbón, K. Córdoba, A. Sampedro, C. Lumbreras, M. Moreno-Aliaga, R. Enríquez de Salamanca, P. Berraondo, A. Fontanellas   +11 more
semanticscholar   +1 more source

Prophylactic Heme Arginate Infusion for Acute Intermittent Porphyria

Frontiers in Pharmacology, 2021
Objectives: This study aimed to evaluate the efficacy of long-term weekly prophylactic heme arginate (HA) infusions in reducing attack frequency and severity in female AIP patients. Methods: We report the results of five female AIP patients with frequent
Hung-Chou Kuo, Chia-Ni Lin, Yi-fen Tang
semanticscholar   +1 more source

Acute intermittent porphyria exacerbation following in vitro fertilization treatment

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objectives: Assisted reproductive technology is commonly used for women with infertility. We report a case of acute intermittent porphyria associated with in vitro fertilization treatment.
Geok Huey New, Pei-Yang Hsu, Meng-Hsing Wu   +2 more
doaj   +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, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +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

Porphyria: a case report

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, Pratibha Kandel, Smrity Rajkarnikar, Anuradha Kadel, Apeksha Niraula, Raju Kumar Dubey, Machhindra Lamichhane, Mithileshwer Raut, Aseem Bhattarai, Eans Tara Tuladhar, Vijay Kumar Sharma   +10 more
doaj   +1 more source

Acute intermittent porphyria: A case report [PDF]

Vojnosanitetski 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, Ristanović Aleksandra, Vuković Rade, Veljović Milić   +3 more
doaj   +1 more source