Results 51 to 60 of about 5,389 (175)

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

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria [PDF]

Liver Int
ABSTRACT Background and Aims This study aimed to characterise symptoms and assess the prevalence of elevated urine porphyrin precursors in first‐degree relatives of acute hepatic porphyria (AHP) patients who have never experienced acute attacks and had no previous AHP genetic or biochemical testing.
Merati M, Jayakumar N, Kapoor Y, Naik H, Balwani M, Anderson K, Bonkovsky H, Desnick R, McGuire B, Phillips J, Bissell D, Wang B.   +11 more
europepmc   +2 more sources

Exploring the Discrepancies in the Biological Activities of Extracts From Guadua angustifolia Var. Bicolor Londoño Collected in Two Different Sites

Chemistry &Biodiversity, Volume 22, Issue 9, September 2025.
ABSTRACT Guadua angustifolia var. bicolor Lodoño is a Colombian bamboo species that has shown promising medicinal properties. This study aims to investigate the differences in the chemical composition and biological activity of extracts from two different populations of G. angustifolia var. bicolor, collected in Bauru and Tatuí, Brazil.
João Kazlauckas, Maria Tereza Grombone Guaratini, Paulo Roberto H. Moreno   +2 more
wiley   +1 more source

ALAD Inhibition by Porphobilinogen Rationalizes the Accumulation of δ-Aminolevulinate in Acute Porphyrias [PDF]

, 2022
Itxaso San Juan, Tania Pereira-Ortuzar, Xabier Cendoya, Ana Laín, Jordi To‐Figueras, Borja Mateos, Francisco J. Planes, Ganeko Bernardo‐Seisdedos, José M. Mato, Óscar Millet   +9 more
openalex   +1 more source

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +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

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT The introduction of nitisinone (NTBC) and newborn screening for Tyrosinemia type 1 (TT1) enabled preemptive treatment of patients, thereby significantly improving outcomes by preventing liver, kidney, and neurological issues. Treatment goals have shifted from emergency treatment to long‐term care.
Allysa M. Kuypers, Anibh M. Das, Arianna Maiorana, M. Rebecca Heiner‐Fokkema, Francjan J. van Spronsen, The TT1 MetabERN Professional Collaboration Group, Diana Ballhausen, Lukasz Kaluzny, François‐Guillaume Debray, Yngve Thomas Bliksrud, Katarina Brennerova, Amaya Bélanger‐Quintana, Joanna Taybert, Yılmaz Yıldız, Ayşegül Tokatlı, Serap Sivri, Ali Dursun, Paula Sánchez Pintos, Amelie S. Lotz‐Havla, Ute Spiekerkoetter, Natalie Weinhold, Julia Neugebauer, Corinne de Laet, Agne Cerkauskaite Kerpauskiene, Andrea Bordugo, Fatma Derya Bulut, Pascale De Lonlay, Allan M. Lund, Dagmar Prochazkova, Ana Gaspar, Alessandro Rossi, Beata Kieć‐Wilk, Dorothea Haas, Eva Thimm, Javier de las Heras, Jiri Zeman, Marion Brands, Sarah Catharina Grünert, Margreet A. E. Wagenmakers, Francesco Porta, Urh Groselj   +40 more
wiley   +1 more source

Two Subunits of the Rpd3 Histone Deacetylase Complex of Cochliobolus heterostrophus Are Essential for Nitrosative Stress Response and Virulence, and Interact With Stress‐Response Regulators ChHog1 and ChCrz1

Molecular Plant Pathology, Volume 26, Issue 8, August 2025.
ChPho23 and ChSds3, two components of the Rpd3 histone deacetylase complex associated with ChHog1, regulate the transcription factor ChCrz1 and modulate the nitrosative stress response and virulence in Cochliobolus heterostrophus. ABSTRACT Southern corn leaf blight (SCLB), caused by Cochliobolus heterostrophus, is a destructive disease in maize‐growing
Jinyu Fan, Jun Hu, Dan Li, Yuanyuan Tian, Mengjiao Jia, Tianye Liang, Hongyu Pan, Xianghui Zhang   +7 more
wiley   +1 more source

Host Porphobilinogen Deaminase Deficiency Confers Malaria Resistance in Plasmodium chabaudi but Not in Plasmodium berghei or Plasmodium falciparum During Intraerythrocytic Growth

Frontiers in Cellular and Infection Microbiology, 2020
An important component in host resistance to malaria infection are inherited mutations that give rise to abnormalities and deficiencies in erythrocyte proteins and enzymes.
Cilly Bernardette Schnider, Cilly Bernardette Schnider, Hao Yang, Lora Starrs, Anna Ehmann, Farid Rahimi, Elena Di Pierro, Giovanna Graziadei, Kathryn Matthews, Tania De Koning-Ward, Denis C. Bauer, Simon J. Foote, Gaetan Burgio, Brendan J. McMorran   +13 more
doaj   +1 more source

Trends in resource utilization for new‐onset psychosis hospitalizations at children's hospitals

Journal of Hospital Medicine, Volume 20, Issue 7, Page 710-726, July 2025.
Abstract Background Children with new‐onset psychosis often require hospitalization for medical evaluation. Objectives The goal of this study was to assess variations in the management of children with new‐onset psychosis and characterize trends in resource utilization.
Ankita Gupta, Matt Hall, Benjamin Masserano, Averi Wilson, Katherine Johnson, Clifford Chen, Lasya Challa, Harita Katragadda, Vineeta Mittal   +8 more
wiley   +1 more source