Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenol...
Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy
About this item
Full title
Author / Creator
Pereira, Fernanda dos Santos , Matte, Ursula , Habekost, Clarissa Troller , Castilhos, Raphael Machado de , El Husny, Antonette Souto , Lourenço, Charles Marques , Vianna-Morgante, Angela M. , Giuliani, Liane , Galera, Marcial Francis , Honjo, Rachel , Kim, Chong Ae , Politei, Juan , Vargas, Carmen Regla and Jardim, Laura Bannach
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential effect of geographical origin in clinical characteristics.
X- ALD patients from Brazil, Argentina and Uruguay were invite...
Alternative Titles
Full title
Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy
Authors, Artists and Contributors
Author / Creator
Matte, Ursula
Habekost, Clarissa Troller
Castilhos, Raphael Machado de
El Husny, Antonette Souto
Lourenço, Charles Marques
Vianna-Morgante, Angela M.
Giuliani, Liane
Galera, Marcial Francis
Honjo, Rachel
Kim, Chong Ae
Politei, Juan
Vargas, Carmen Regla
Jardim, Laura Bannach
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1324394985
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1324394985
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0034195
