Correlation between neurological features, nutritional status, and metabolic changes in patients with Ataxia-telangiectasia-Reference-Cited by-同舟云学术

Correlation between neurological features, nutritional status, and metabolic changes in patients with Ataxia-telangiectasia

Published:2021-04-03 Issue:4 Volume:9 Page:133-137
ISSN:2167-8707
Container-title:Expert Opinion on Orphan Drugs
language:en
Short-container-title:Expert Opinion on Orphan Drugs

Author:

Barreto Talita Lemos Neves¹,Raslan Ivana Rocha²,Trajano Karina Kakiuchi¹,Maggi Fernanda Aparecida²,Pedroso José Luiz²,Barsottini Orlando Graziani Povoas²,Fonseca Fernando Luiz Affonso³^ORCID,Ferreira Ariel Cordeiro³,Aranda Carolina Sanchez¹,Sarni Roseli Oselka Saccardo³

Affiliation:

1. Department of Pediatrics. Division of Allergy, Clinical Immunology and Rheumatology, Universidade Federal De São Paulo (UNIFESP), São Paulo, Brazil

2. Division of General Neurology and Ataxia Unit, Universidade Federal De São Paulo (UNIFESP), São Paulo, Brazil

3. Centro Universitário Saúde ABC, Faculdade De Medicina Do ABC (FMABC), São Paulo, Brazil

Publisher

Informa UK Limited

Subject

Pharmacology (medical),Health Policy,Pharmacology, Toxicology and Pharmaceutics (miscellaneous)

Link

https://www.tandfonline.com/doi/pdf/10.1080/21678707.2021.1927701

Reference35 articles.

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2. Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management

3. Lavin MF, Lederman HM. Chromosomal breakage syndromes associated with immunodeficiency. In: Stiehm ER, Ochs HD, Winkelstein JA, editors. Immunologic disorders in infants & children. 5th ed. Philadelphia: Elsevier/Saunders; 2004. p. 580–587

4. The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents

5. The Pathogenesis of Ataxia-Telangiectasia

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1. Ataxia-Telangiectasia Familiar: Un reporte de casos;Revista de la Facultad de Medicina;2023-11-20

2. Hepatic fibrosis: a manifestation of the liver disease evolution in patients with Ataxia-telangiectasia;Orphanet Journal of Rare Diseases;2023-05-05