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Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
Delarosa-Rodríguez, Rocío; Santotoribio, José D; Paula, Hernández-Arévalo; González-Meneses, Antonio; García-Morillo, Salvador; Jiménez-Arriscado, Pilar; Guerrero, Juan M; Macher, Hada C.
Affiliation
  • Delarosa-Rodríguez R; Molecular Diagnosis and Rare Diseases Laboratory, Hospital Universitario Virgen del Rocío, Unidad de Bioquímica Clínica, Seville, Spain.
  • Santotoribio JD; Molecular Diagnosis and Rare Diseases Laboratory, Hospital Universitario Virgen del Rocío, Unidad de Bioquímica Clínica, Seville, Spain.
  • Paula HA; Molecular Diagnosis and Rare Diseases Laboratory, Hospital Universitario Virgen del Rocío, Unidad de Bioquímica Clínica, Seville, Spain.
  • González-Meneses A; Dysmorphology Department, Hospital Universitario Virgen del Rocío, Unidad de Pediatría, Seville, Spain.
  • García-Morillo S; Collagenosis and Minority Diseases Department, Hospital Universitario Virgen del Rocío, Unidad de Medicina Interna, Seville, Spain.
  • Jiménez-Arriscado P; Molecular Diagnosis and Rare Diseases Laboratory, Hospital Universitario Virgen del Rocío, Unidad de Bioquímica Clínica, Seville, Spain.
  • Guerrero JM; School of Medicine, Department of Molecular Biology, Biochemistry and Inmunology, Hospital Universitario Virgen del Rocío, Unidad de Bioquímica Clínica, University of Seville, Seville, Spain.
  • Macher HC; Molecular Diagnosis and Rare Diseases Laboratory, Hospital Universitario Virgen del Rocío, Unidad de Bioquímica Clínica, Seville, Spain.
Clin Genet ; 99(6): 761-771, 2021 06.
Article in En | MEDLINE | ID: mdl-33527381
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sphingolipids / Glycolipids / Fabry Disease / Alpha-Galactosidase Type of study: Diagnostic_studies / Observational_studies Limits: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: Spain Country of publication: Denmark
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sphingolipids / Glycolipids / Fabry Disease / Alpha-Galactosidase Type of study: Diagnostic_studies / Observational_studies Limits: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: Spain Country of publication: Denmark