Ana K. Bottcher
Porto Alegre, RS, Brazil
Last Updated: 09/26/2026
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Found 11 publications
Thirty-three years of X-linked adrenoleukodystrophy diagnosis at a Brazilian reference center: diagnostic patterns and key findings.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: July 23, 2026
Deleterious in vitro effects of ammonia and accumulated urea cycle amino acids on leukocyte DNA: assessment of the antioxidant effects of N-acetylcysteine and L-carnitine.
Journal: Naunyn-Schmiedeberg's archives of pharmacology
Published: February 10, 2026
Oxidative Stress and Inflammation in Methylmalonic and Propionic Acidemias: A Review.
Journal: Cell biochemistry and function
Published: January 10, 2026
Toxicity of Organic Acids Leading to Renal Dysfunction in Glutaric Acidemia Type I: A Mini Review.
Journal: Cell biochemistry and function
Published: December 28, 2025
Genetic Analysis Strategy for Diagnosing Congenital Heart Disease.
Journal: Molecular syndromology
Published: April 03, 2025
Nitisinone treatment protect hereditary tyrosinemia type I patients against inflammation, DNA and protein oxidative damage by decreasing succinylacetone levels.
Journal: Metabolic brain disease
Published: February 06, 2025
HIRA, NKX2-5, and GATA4 Alterations versus Cardiac Malformations Related to 22q11.2 Deletion Syndrome.
Journal: Molecular syndromology
Published: February 03, 2025
First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes.
Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
Published: June 12, 2024
What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication.
Journal: Cell biochemistry and function
Published: June 04, 2024
invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.
Journal: Genes
Published: May 09, 2024
Turner syndrome and neuropsychological abnormalities: a review and case series.
Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
Published: October 13, 2023
Showing 1-11 of 11
Last Updated: 09/26/2026