Nutritional status and metabolic alterations in patients with ataxia-telangiectasia

Nutritional status and metabolic alterations in patients with ataxia-telangiectasia

Abstract Background Ataxia-telangiectasia (A-T) is a DNA repair disorder characterized by progressive degeneration, immunodeficiency, cancer predisposition, malnutrition, metabolic disorders, and chronic liver disease. The study aims to describe the nutritional status and plasma levels of biomarkers...

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Main Authors: Cristiano do Amaral de Leon, Sérgio Luis Amantea, Renan Augusto Pereira, Ellen O. Dantas, Jéssica Loekmanwidjaja, Beatriz T. Costa-Carvalho, Juliana T. L. Mazzucchelli, Carolina S. Aranda, Maria E. González-Serrano, Elizabeth Alejandra De La Cruz Córdoba, Liliana Bezrodnik, Ileana Moreira, Janaira F. S. Ferreira, Vera M. Dantas, Valéria S. F. Sales, Carmen L. Navarrete, Maria M. S. Vilela, Isabella P. Motta, Jose Luis Franco, Julio Cesar Orrego Arango, Jesús A. Álvarez-Álvarez, Lina Rocío Riaño Cardozo, Julio C. Orellana, Antonio Condino-Neto, Cristina M. Kokron, Myrthes T. Barros, Lorena Regairaz, Diana Cabanillas, Carmen L. N. Suarez, Nelson A. Rosario, Herberto J. Chong-Neto, Olga A. Takano, Maria I. S. V. Nadaf, Lillian S. L. Moraes, Fabiola S. Tavares, Flaviane Rabelo, Jessica Pino, Wilmer C. Calderon, Daniel Mendoza-Quispe, Ekaterine S. Goudouris, Virginia Patiño, Cecilia Montenegro, Monica S. Souza, Aniela B. X. C. Castelo Branco, Wilma C. N. Forte, Flavia A. A. Carvalho, Gesmar Segundo, Marina F. A. Cheik, Pérsio Roxo-Junior, Maryanna Peres, Annie M. Oliveira, Arnaldo C. P. Neto, Maria Claudia Ortega-López, Alejandro Lozano, Natalia Andrea Lozano, Leticia H. Nieto, Anete S. Grumach, Daniele C. Costa, Nelma M. N. Antunes, Victor Nudelman, Camila T. M. Pereira, Maria D. M. Martinez, Francisco J. R. Quiroz, Aristoteles A. Cardona, Maria E. Nuñez-Nuñez, Jairo A. Rodriguez, Célia M. Cuellar, Gustavo Vijoditz, Daniélli C. Bichuetti-Silva, Carolina C. M. Prando
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Ataxia telangiectasia syndrome
Malnutrition
Lipid metabolism disorders
Glucose metabolism disorders
Aminotransferases
Online Access:https://doi.org/10.1186/s13023-025-03785-2
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https://doi.org/10.1186/s13023-025-03785-2

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