Results 111 to 120 of about 20,672 (237)

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

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, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +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, CAPASSO, Giovambattista, UNWIN RJ   +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, Helen Healy, George T John, Karin Lust, Andrew Mallett   +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, Ochoa A., Edecia, Cortés N., Miriam   +2 more
core  

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, BAKKALOĞLU EZGÜ, SEVCAN AZİME, Huseynli, Behruz, AKKUZU, EMİNE   +3 more
core   +1 more source

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, Buenaño Carrillo, David Nicolás, Moscoso Estrella, Maybrith Akane, Borja Pante , Tanya Elizabeth   +3 more
core  

Antimicrobial prescribing guidelines for feedlot cattle

Australian Veterinary Journal, Volume 104, Issue 7, Page 413-438, July 2026.
P Cusack, T Batterham, SW Page, GF Browning, JM Norris   +4 more
wiley   +1 more source

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