Results 41 to 50 of about 6,328 (193)

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case Reports in Genetics, 2020
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino, L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera, M. V. Rossetti   +6 more
doaj   +1 more source

Acute intermittent porphyria (AIP) in a patient with celiac disease

Neurological Research and Practice, 2020
We present the case of an 18 year old Caucasian with known celiac disease, who suffered a severe first attack of acute intermittent porphyria (AIP) with neuropsychiatric symptoms, severe tetraparesis and respiratory insufficiency.
Sebastian Nunnemann, Christoph Uibel, Petra Budig, Mathias Mäurer   +3 more
doaj   +1 more source

A family with acute intermittent porphyria [PDF]

, 2008
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms.
Billoo, Abdul Gaffar, Lone, Saira Waqar
core   +1 more source

Fibulin-1 is a marker for arterial extracellular matrix alterations in type 2 diabetes [PDF]

, 2011
Extracellular matrix alterations are important elements in the arterial changes seen in diabetes, being associated with increased vascular stiffness and the development of cardiovascular diseases.
Aagard, Jan, Argraves, William Scott, Cangemi, Claudia, Funder, Jonas Amstrup, Gall, Mari-Anne, Henriksen, Jan Erik, Hjortdal, Vibeke E., Høilund-Carlsen, Poul-Flemming, Jespersen, Marie Louise, Knudsen, Steen, Kruse, Torben A, Parving, Hans-Henrik, Poulsen, Michael Kjaer, Rasmussen, Lars Melholt, Rossing, Peter, Skov, Vibe, Twal, Waleed O   +16 more
core   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Progress in RNA‐Targeted Therapeutics for Human Diseases

MedComm, Volume 7, Issue 2, February 2026.
RNA‐targeted therapies are revolutionizing molecular medicine by transitioning from a “protein‐centric” focus to an “RNA‐regulatory network” approach. Leveraging RNA's diverse roles in gene regulation, signaling, and epigenetic modifications, advanced platforms such as ASOs, siRNA, miRNA, mRNA, aptamers, shRNA, and CRISPR/Cas systems are enabling ...
Wangzheqi Zhang, Aimin Jiang, Bin‐Kui Jia, Yuming Jin, Yinghu Chen, Zhaoyu Li, Yan Liao, Haoling Zhang, Zhiheng Lin, Xiao Fang, Linhui Wang   +10 more
wiley   +1 more source

Acute Intermittent Porphyria Associated with Respiratory Failure: A Multidisciplinary Approach

Critical Care Research and Practice, 2011
Despite being challenging, delivery of effective nursing care to patients with acute intermittent porphyria is a matter of utmost importance. In this paper, the diversity of symptoms and the difficult diagnosis of this condition are emphasized, and ...
Mayra Gonçalves Menegueti, Alkmim-Teixeira Gil Cezar, Karin Aparecida Casarini, Kátia Simone Muniz Cordeiro, Anibal Basile-Filho, Olindo Assis Martins-Filho, Maria Auxiliadora-Martins   +6 more
doaj   +1 more source

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria [PDF]

, 1992
A deficiency in the activity of uroporphyrinogen decarboxylase (UROD), the fifth enzyme of the haem biosynthetic pathway, is found in familial porphyria cutanea tarda (F-PCT) and hepatoerythropoietic porphyria (HEP). A new mutation (R292G) and a deletion
Bourgeois, F. (Francine), Grandchamp, B. (Bernard), Nordmann, Y. (Yves), Rooij, F.W.M. (Felix) de, Siersema, P.D. (Peter), Verneuil1, H. (Hubert) de, Wilson, J.H.P. (Paul)   +6 more
core   +1 more source

Developing the FIGO‐IPPS “R U MOVVING SOMe” classification system for female chronic pelvic pain

International Journal of Gynecology &Obstetrics, Volume 171, Issue 2, Page 550-565, November 2025.
Abstract The goal was to develop a pragmatic classification system for conditions associated with chronic pelvic pain (CPP), aiming to enhance diagnosis, management, education, and research of CPP. An international, multidisciplinary panel participated in a modified RAND/UCLA Delphi consensus.
Georgine Lamvu, Juan D. Villegas‐Echeverri, Catherine Allaire, Sawsan As‐Sanie, Jorge Carrillo, Susan Khalil, Andrew W. Horne, Alexander Wang, Malcolm G. Munro   +8 more
wiley   +1 more source

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici   +3 more
wiley   +1 more source