Results 51 to 60 of about 260 (87)

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

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

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

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

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

CRISPR/Cas9-mediated glycolate oxidase disruption is an efficacious and safe treatment for primary hyperoxaluria type I

Nature Communications, 2018
Substrate reduction therapies (SRT) are a promising therapeutic approach for monogenic inherited metabolic diseases. Here the authors evaluate the therapeutic potential of an in vivo CRISPR/Cas9-mediated SRT to treat primary hyperoxaluria type I and ...
Nerea Zabaleta, Miren Barberia, Cristina Martin-Higueras, Natalia Zapata-Linares, Isabel Betancor, Saray Rodriguez, Rebeca Martinez-Turrillas, Laura Torella, Africa Vales, Cristina Olagüe, Amaia Vilas-Zornoza, Laura Castro-Labrador, David Lara-Astiaso, Felipe Prosper, Eduardo Salido, Gloria Gonzalez-Aseguinolaza, Juan R. Rodriguez-Madoz   +16 more
doaj   +1 more source

Systemic Oxalosis in Infants: Two Cases and Literature Review

Turkish Journal of Nephrology, 2019
The infantile form of primary hyperoxaluria is a very rare disease and often presents as a lifethreatening condition because of rapid progression to end-stage renal disease and systemic oxalosis.
Zübeyde GÜNDÜZ, Funda BAŞTUĞ, Sebahat TÜLPAR, Hakan POYRAZOĞLU, Hülya AKGÜN, Ruhan DÜŞÜNSEL   +5 more
doaj  

Kaleidoscopic Views in the Bone Marrow: Oxalate Crystals in a Patient Presenting with Bicytopenia

Turkish Journal of Hematology, 2016
Pancytopenia associated with BM infiltration of different deposits is a rare condition mostly associated with amyloidosis or the accumulation of iron. One of the rarest deposits in the BM is oxalate crystals due to hyperoxaluria [1,2,3].
Yelda Dere, Simge Erbil2, Mümtaz Yılmaz   +2 more
doaj   +1 more source

Primary Hyperoxaluria Diagnosed Based on Bone Marrow Biopsy in Pancytopenic Adult with End Stage Renal Disease

Case Reports in Hematology, 2015
Inborn errors of metabolism cause increase of metabolites in serum and their deposition in various organs including bone marrow. Primary hyperoxaluria (PH) is a rare inborn error in the pathway of glyoxylate metabolism which causes excessive oxalate ...
Pardis Nematollahi, Fereshteh Mohammadizadeh   +1 more
doaj   +1 more source

Multiomics Assessment of the Gut Microbiome in Rare Hyperoxaluric Conditions

Kidney International Reports
Introduction: Hyperoxaluria is a risk factor for kidney stone formation and chronic kidney disease progression. The microbiome is an important protective factor against oxalate accumulation through the activity of its oxalate-degrading enzymes (ODEs). In
Nadim Zaidan, Chan Wang, Ze Chen, John C. Lieske, Dawn Milliner, Barbara Seide, Melody Ho, Huilin Li, Kelly V. Ruggles, Frank Modersitzki, David S. Goldfarb, Martin Blaser, Lama Nazzal   +12 more
doaj   +1 more source