Results 31 to 40 of about 2,138 (167)

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine‐glyoxylate aminotransferase mislocalization.
Timo Keskinen, Sami Jalil, Irem Gümüşoğlu, Juhana Juutila, Nadim Kestilä, Emilia Kuuluvainen, Ville Hietakangas, Diego Balboa, Kirmo Wartiovaara, Mervi E. Hyvönen   +9 more
wiley   +1 more source

Combined liver and kidney transplantation in primary hyperoxaluria: A report of three cases and review of the literature

Saudi Journal of Kidney Diseases and Transplantation, 2013
Primary hyperoxaluria type-1 (PH-1) is a rare autosomal recessive metabolic disorder leading to excessive oxalate production, deposition of calcium oxalate crystals in the kidney, nephrocalcinosis, progressive renal failure and systemic deposition of ...
Prasad Nair, Torki Al-Otaibi, Narayanan Nampoory, Wafa′a Al-Qabandi, Tarek Said, Medhat Abdul Halim, Osama Gheith   +6 more
doaj   +1 more source

Rumex Species: Phytochemistry, Pharmacology and Nutritional Potential for Food and Health Applications

Food Science &Nutrition, Volume 13, Issue 12, December 2025.
Rumex dentatus, R. vesicarius, and Emex spinosa are traditionally used for managing gastrointestinal, respiratory, hepatic, and inflammatory disorders. In addition to their ethnomedicinal value, some species are consumed as wild edibles. Pharmacological studies support their antimicrobial, antioxidant, hepatoprotective, cytotoxic, and antidiabetic ...
Mai Mohamed Gohar, Shahira Mohamed Ezzat, Balakyz Yeskaliyeva, Seham Salaheldin Elhawary, Farid Noshey Kirollos, Aya Khouchlaa, Abdelhakim Bouyahya, Daniela Calina, Javad Sharifi‐Rad, William N. Setzer, Miquel Martorell   +10 more
wiley   +1 more source

Miocardiopatías infiltrativas. Aporte de la ecocardiografía

Revista Colombiana de Cardiología, 2019
Resumen: Las miocardiopatías infiltrativas se caracterizan por un depósito de sustancias anormales dentro de la pared ventricular que generan rigidez y así disfunción diastólica progresiva, que típicamente precede la disfunción sistólica. Estas entidades
Claudia P. Jaimes, Laura Catalina Arcos, Nubia Esperanza Carrero, Julián Gelves, Luis Sánchez   +4 more
doaj   +1 more source

Primary hyperoxaluria: a case series

Journal of Medical Case Reports, 2023
Background Primary hyperoxaluria (PH) is a rare genetic disorder characterized by the excessive production and accumulation of oxalate. We present five cases of PH, each exhibiting varying manifestations of the disorder including a case presenting as ...
Jawad Iqbal Rather, Rabiya Rasheed, Muzafar Maqsood Wani, Mohammad Ashraf Bhat, Imtiyaz Ahmad Wani   +4 more
doaj   +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

Incidence and Risk Factors of Primary Arteriovenous Access Failure in Dialysis Patients: A National‐Based Retrospective Cohort Study

Health Science Reports, Volume 8, Issue 9, September 2025.
ABSTRACT Background and Aim The demand for hemodialysis (HD) among patients with end‐stage kidney disease (ESKD) is rising globally. A well‐functioning vascular access (VA) is crucial for effective dialysis therapy. This study aims to determine the incidence and risk factors of primary arterio‐venous access (AVA) maturation failure in HD patients ...
Tarek A. Ghonimi, Abdullah Hamad, Musaab Elgaali, Mohamed Farid, Mohamed Ezat, Rania A/Aziz, Mohamed Amin, Hassan Al‐Malki, Mohamad Alkadi   +8 more
wiley   +1 more source

Hiperoxaluria primaria con pancitopenia: a propósito de un caso

Revista Médica Herediana, 2005
Se presenta el caso de un varón, de 15 años de edad, con diagnóstico de litiasis renal desde la infancia que evolucionó a Insuficiencia Renal Crónica, requiriendo hemodiálisis.
Jessica Bravo Zuñiga, Michael Cieza Terrones, Reyner Loza Muñarriz, Juan Carlos Ferrufino Llach, Nancy Mayo Simon   +4 more
doaj  

Tocilizumab as Adjuvant Therapy in Refractory Antibody Mediated Rejection in Pediatric Kidney Transplant Recipients

Pediatric Transplantation, Volume 29, Issue 6, September 2025.
ABSTRACT Background Antibody mediated rejection (ABMR) is a major cause of graft loss in kidney transplantation. There are limited treatment options with poor efficacy. Intravenous tocilizumab has been reported to be of benefit in a small number of patients.
Anne M. Durkan, Melanie Aldridge, Stephen I Alexander, Deirdre Hahn   +3 more
wiley   +1 more source

A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXT

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Human alanine:glyoxylate aminotransferase (AGT) is a liver peroxisomal enzyme that metabolizes glyoxylate, the oxalate precursor, to glycine. AGT deficiency, due to recessive pathogenic changes in the AGXT gene, results in calcium oxalate accumulation and kidney stones, a condition known as primary hyperoxaluria type 1 (PH1).
Luana Ruta, Andrea G. Cogal, Gioena Pampalone, David J. Sas, John C. Lieske, Gill Rumsby, Barbara Cellini, Peter C. Harris   +7 more
wiley   +1 more source