X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi; Helena Myskóva; Mariela Roxana Monti; Carlos Enrique Argaraña; Masashi Morita; Stephan Kemp; Raquel Dodelson de Kremer; Lenka Dvoráková; Ana María Oller de Ramírez

doi:10.1371/journal.pone.0052635

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Open Access

Peer-reviewed

Research Article

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi ,

* E-mail: cytiam@hotmail.com

Affiliation Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Cátedra de Clínica Pediátrica, Facultad de Medicina, Universidad Nacional de Córdoba, Hospital de Niños, Córdoba, Argentina
⨯
Helena Myskóva,

Affiliation Institute for Inherited Metabolic Disorders, First Faculty of Medicine and General Faculty Hospital, Prague, Czech Republic
⨯
Mariela Roxana Monti,

Affiliation CIQUIBIC, Department of Biological Chemistry, School of Chemistry, National University of Córdoba, Córdoba, Argentina
⨯
Carlos Enrique Argaraña,

Affiliation CIQUIBIC, Department of Biological Chemistry, School of Chemistry, National University of Córdoba, Córdoba, Argentina
⨯
Masashi Morita,

Affiliation Department of Biological Chemistry, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan
⨯
Stephan Kemp,

Affiliation Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Departments of Pediatrics/Emma Children’s Hospital and Clinical Chemistry, Amsterdam, The Netherlands
⨯
Raquel Dodelson de Kremer,

Affiliation Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Cátedra de Clínica Pediátrica, Facultad de Medicina, Universidad Nacional de Córdoba, Hospital de Niños, Córdoba, Argentina
⨯
Lenka Dvoráková,

Affiliation Institute for Inherited Metabolic Disorders, First Faculty of Medicine and General Faculty Hospital, Prague, Czech Republic
⨯
Ana María Oller de Ramírez

Affiliation Centro de Estudio de las Metabolopatías Congénitas (CEMECO), Cátedra de Clínica Pediátrica, Facultad de Medicina, Universidad Nacional de Córdoba, Hospital de Niños, Córdoba, Argentina
⨯

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi,
Helena Myskóva,
Mariela Roxana Monti,
Carlos Enrique Argaraña,
Masashi Morita,
Stephan Kemp,
Raquel Dodelson de Kremer,
Lenka Dvoráková,
Ana María Oller de Ramírez

Published: December 31, 2012
https://doi.org/10.1371/journal.pone.0052635

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Adrenoleukodystrophy
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Frameshift mutation
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Fibroblasts
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Substitution mutation
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Mutation detection
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