Results 71 to 80 of about 5,205 (214)

Glycolate determination detects type I primary hyperoxaluria in dialysis patients

, 1991
Glycolate determination detects type I primary hyperoxaluria in dialysis patients. The detection of type I primary hyperoxaluria is based on the finding of exceedingly high oxalate excretion which is associated with increased glycolate excretion.
Vitale, Corrado, Bianco, Ornella, Marangella, Martino, Linari, Franco, Petrarulo, Michele, Finocchiaro, Pietro   +5 more
core   +1 more source

Primary hyperoxaluria type 1 in Tunisian children

Saudi Journal of Kidney Diseases and Transplantation, 2012
To determine the clinical, biological, and radiological futures of primary hyper-oxaluria type 1 in Tunisian children, we retrospectively studied 44 children with primary hyper-oxaluria type 1 who were treated in our center from 1995 to 2009.
Tahar Gargah, Nourchene Khelil, Gharbi Youssef, Wiem Karoui, Mohamed Rachid Lakhoua, Jaouida Abdelmoula   +5 more
doaj   +1 more source

Medicine Development and Access for Rare Diseases: Can We Do Better?

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Recent advances in molecular biology and genomics have significantly enhanced our understanding of rare diseases. While enabling the development of highly targeted therapies, it also leads to complexity in the development, regulation, and accessibility of orphan medicines.
Carla E. M. Hollak, Noa Rosenberg, Colinda Post, Nina Stolwijk, Evert Manders, Daphne Schoenmakers, Bart Penninx, Niels Reijnhout, Kathelijn Verdeyen, Roel Jonker, Annet M. Bosch, Mirjam Langeveld, Vincent van der Wel, Saco de Visser, Sibren van den Berg   +14 more
wiley   +1 more source

Primary hyperoxaluria

, 1996
Primary hyperoxaluria is a rare hereditary disease. Two types have been identified. Type 1 is due to the deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase/serine:pyruvate amino-transferase whereas, in type 2, the ...
De Pauw, Luc, Toussaint, Charles
core  

Combined liver-kidney transplant in a 21-month-old child with type 1 primary hyperoxaluria—The perioperative challenges

Indian Journal of Anaesthesia, 2020
Primary hyperoxaluria type 1(PH 1) is the most common indication for a paediatric combined liver-kidney transplant. It is a technically challenging procedure. We describe the challenges in managing a 21-month-old female child weighing 7 kg for a combined
Nidhin Eldo, Sangeeth P Srinivasan, Nisha Rajmohan, Mathew Jacob   +3 more
doaj   +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

Hyperoxaluria in children [PDF]

, 2014
Hiperoksalurija je jedan od glavnih rizičnih čimbenika za rekurentnu urolitijazu i progresivnu nefrokalcinozu. Odgovorna je za 2-20% metaboličkih rizičnih faktora identificiranih u djece i adolescenata s urolitijazom.
Barić, Anastasija
core  

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, Volume 22, Issue 16, 17 March 2026.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source

Choroidal neovascularization in primary hyperoxaluria

, 2002
PURPOSE: To report a case of primary hyperoxaluria in which choroidal neovascularization developed bilaterally. DESIGN: Observational case report.
Moschos, MN, Panagiotidis, DN, Gogas, PS, Friberg, TR, Theodossiadis, PG, Pantelia, EM   +5 more
core  

The Importance of Detecting the Signs of Primary Hyperoxaluria—Cardiac Oxalosis in Primary Hyperoxaluria Type 1

Annals of Internal Medicine: Clinical Cases
A 27-year-old man presented with influenza-like symptoms and rapidly progressing respiratory failure requiring mechanical ventilation and venovenous extracorporeal membrane oxygenation on the day of admission.
Salmina J. Guivala, Panagiotis Xynogalos, Bernd Hoppe, Pamela M. Okun, Maja Hempel, Bodo Beck, Christian Nusshag, Norbert Frey, Philipp Schlegel   +8 more
doaj   +1 more source