Results 61 to 70 of about 4,438 (134)
Hyperoxaluria, including primary and secondary hyperoxaluria, is a disorder characterized by increased urinary oxalate excretion and could lead to recurrent calcium oxalate kidney stones, nephrocalcinosis and eventually end stage renal disease.
Lingyue An +12 more
doaj +1 more source
Primary hyperoxaluria type 1 in Tunisian children
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 +5 more
doaj +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
ABSTRACT Antinutrients like phytic acid and oxalates reduce mineral bioavailability by forming insoluble complexes with iron, zinc, and calcium. Probiotic supplementation may counteract these effects through enzymatic activity (e.g., phytase, oxalate decarboxylase) and microbiota modulation. This PRISMA‐based meta‐analysis evaluated 27 in vivo studies (
Ligia Olar‐Pop +5 more
wiley +1 more source
Plasma cell‐rich rejection (PCRR) occurred in 15.3% of pediatric liver transplant recipients. PCRR was associated with recurrent rejection, severe rejection, central perivenulitis, ANA positivity, and chronic rejection. PCRR was not independently associated with mortality.
R. Gemell +3 more
wiley +1 more source
Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra +4 more
wiley +1 more source
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 +8 more
doaj +1 more source
Kaleidoscopic Views in the Bone Marrow: Oxalate Crystals in a Patient Presenting with Bicytopenia
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 +2 more
doaj +1 more source
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 +16 more
doaj +1 more source
Systemic Oxalosis in Infants: Two Cases and Literature Review
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 +5 more
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