Results 111 to 120 of about 20,669 (238)
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
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
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
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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
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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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Hyperammonemic encephalopathy requiring hemodialysis in a child with distal renal tubular acidosis
A 3.5-year-old girl with genetically proven distal renal tubular acidosis presented with lethargy, after numerous episodes of vomiting and poor feeding.
BÜYÜKKARAGÖZ, BAHAR +3 more
core +1 more source
, 2017 Background: Hyperammonemia usually results from an inborn error of metabolism or from an advanced liver disease. Individual case reports suggest that both distal renal tubular acidosis and urinary tract infection may also result in hyperammonemia ...
Caterina M. Clericetti +11 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
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Renal tubular acidosis in children
Journal of Pediatric Critical Care, 2022 Kundan Mittal, Anindya Mittal
doaj +1 more source
Renal tubular acidosis: A ‘basic’ disorder
Equine Veterinary Education, Volume 38, Issue 7, Page 365-366, July 2026.
H. J. Mason, L. G. Arroyo
wiley +1 more source