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  2. Details for: Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. [electronic resource]

By:
  • Couce, María L
Contributor(s):
  • Aldamiz-Echevarría, Luís
  • Bueno, María A
  • Barros, Patricia
  • Belanger-Quintana, Amaya
  • Blasco, Javier
  • García-Silva, María-Teresa
  • Márquez-Armenteros, Ana M
  • Vitoria, Isidro
  • Vives, Inmaculada
  • Navarrete, Rosa
  • Fernández-Marmiesse, Ana
  • Pérez, Belén
  • Pérez-Cerdá, Celia
Producer: 20170515Description: 355-360 p. digitalISSN:
  • 1435-232X
Subject(s):
  • Acute Disease
  • Amino Acid Metabolism, Inborn Errors -- diagnosis
  • Asymptomatic Diseases
  • Carnitine -- analogs & derivatives
  • Child
  • Child, Preschool
  • Chronic Disease
  • Creatinine -- blood
  • Female
  • Fibroblasts -- metabolism
  • Gene Expression
  • Genetic Association Studies
  • Genotype
  • Glycine -- analogs & derivatives
  • Hemiterpenes
  • Humans
  • Infant
  • Infant, Newborn
  • Isovaleryl-CoA Dehydrogenase -- deficiency
  • Male
  • Mutation
  • Neonatal Screening
  • Pentanoic Acids -- blood
  • Phenotype
  • Prevalence
  • Spain -- epidemiology
Online resources:
  • Available from publisher's website
In: Journal of human genetics vol. 62
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Publication Type: Journal Article; Multicenter Study

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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

APA

Couce M. L., Aldamiz-Echevarría L., Bueno M. A., Barros P., Belanger-Quintana A., Blasco J., García-Silva M., Márquez-Armenteros A. M., Vitoria I., Vives I., Navarrete R., Fernández-Marmiesse A., Pérez B. & Pérez-Cerdá C. (20170515). Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. : Journal of human genetics.

Chicago

Couce María L, Aldamiz-Echevarría Luís, Bueno María A, Barros Patricia, Belanger-Quintana Amaya, Blasco Javier, García-Silva María-Teresa, Márquez-Armenteros Ana M, Vitoria Isidro, Vives Inmaculada, Navarrete Rosa, Fernández-Marmiesse Ana, Pérez Belén and Pérez-Cerdá Celia. 20170515. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. : Journal of human genetics.

Harvard

Couce M. L., Aldamiz-Echevarría L., Bueno M. A., Barros P., Belanger-Quintana A., Blasco J., García-Silva M., Márquez-Armenteros A. M., Vitoria I., Vives I., Navarrete R., Fernández-Marmiesse A., Pérez B. and Pérez-Cerdá C. (20170515). Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. : Journal of human genetics.

MLA

Couce María L, Aldamiz-Echevarría Luís, Bueno María A, Barros Patricia, Belanger-Quintana Amaya, Blasco Javier, García-Silva María-Teresa, Márquez-Armenteros Ana M, Vitoria Isidro, Vives Inmaculada, Navarrete Rosa, Fernández-Marmiesse Ana, Pérez Belén and Pérez-Cerdá Celia. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. : Journal of human genetics. 20170515.

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