Results 111 to 120 of about 20,672 (234)
Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist +4 more
wiley +1 more source
Ischemia–Reperfusion Injury: Molecular Mechanisms and Therapeutic Interventions
MedComm, Volume 7, Issue 7, July 2026.Multiorgan ischemia–reperfusion injury begins with ischemia‐induced ATP depletion and ionic imbalance, followed by reperfusion‐triggered mitochondrial ROS/RNS bursts, regulated cell death, and DAMP release. Sterile inflammation converges on endothelial–immune–coagulation crosstalk, where NETs drive immunothrombosis, no‐reflow, and remote organ injury ...
Peng An +4 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru +16 more
wiley +1 more source
Urinary acidification and distal renal tubular acidosis
, 2002 Historically, renal tubular acidosis (RTA) has been classified on a clinical basis, without any reference to the underlying disorder. Here we review the normal mechanisms of renal acidification and we identify disorders of specific transporters (genetic,
SHIRLEY DG +2 more
core
Ibuprofen-related renal tubular acidosis in pregnancy
, 2011 Ibuprofen-related renal tubular acidosis (RTA) has not been previously described in pregnancy but its occurrence outside of pregnancy is being increasingly described.
Matthew Lynch +4 more
core +1 more source
Renal tubular acidosis in a mule mare
Equine Veterinary Education, Volume 38, Issue 7, Page e424-e429, July 2026.Summary Renal tubular acidosis (RTA) in horses is differentiated into type I (distal) and type II (proximal) forms. We report the diagnostic evaluation and treatment of type I RTA in a 13‐year‐old mule mare that was referred because of lethargy and inappetence of several weeks' duration as well as lack of manure, anorexia and mild colic for 3 days.
L. Kummer, K. Lohmann, C. Arnold
wiley +1 more source
Acidosis tubular renal. Presentación de dos casos clínicos
, 1975 La acidosis tubular renal es una entidad nosológica en que hay incapacidad de acidificar la orina por insuficiencia tubular, con función glomerular poco o nada alterada.
Borie B., Gilda +2 more
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Acidosis tubular renal: una revisión bibliográfica
Renal tubular acidosis (RTA) includes a variety of disorders, both congenital and acquired, in which the kidneys are unable to adequately recover filtered bicarbonate (HCO3-) or remove hydrogen ions (H+).
Valencia-Herrera, Alex Ramón +3 more
core
Renal tubular acidosis in children
Journal of Pediatric Critical Care, 2022 Kundan Mittal, Anindya Mittal
doaj +1 more source
Renal tubular acidosis and cirrhosis [PDF]
Postgraduate Medical Journal, 1967 P M, Smith, J E, Middleton, R, Williams
openaire +2 more sources