Results 41 to 50 of about 2,548 (196)
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 +9 more
wiley +1 more source
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 +6 more
doaj +1 more source
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 +10 more
wiley +1 more source
Bone involvement in primary oxalosis. Study of 20 cases
, 1991 International audienceThe authors report 20 cases of primary oxalosis with bone involvement, late revealed in adults in 19 cases. They have studied the clinical, radiological and histological manifestations of this bone oxalosis.
Lafage-Proust, Marie-Hélène +9 more
core +4 more sources
Autopsy Findings of a Case with Oxalosis
, 2009 Oxalosis, deposition of calcium oxalate in tissues, is the final stage of hyperoxaluric syndromes. Being a rare entity, it is often missed, or the diagnosis is delayed, since the definitive diagnosis requires special laboratory tests.
Doganavsargil, Basak +4 more
core +2 more sources
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 +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 +4 more
doaj +1 more source
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 +3 more
wiley +1 more source
New aspects of infantile oxalosis.
, 1987 Infantile oxalosis is the most severe form of primary hyperoxaluria type I (PH I). Only 28 patients have been reported in detail; it was found that diagnosis was usually delayed, and most patients presented before the age of 4 months in renal failure and
Niederwieser A, Fanconi A, Leumann EP
core +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 +4 more
doaj