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Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.
Carnicer-Cáceres, Clara; Villena-Ortiz, Yolanda; Castillo-Ribelles, Laura; Barquín-Del-Pino, Raquel; Camprodon-Gomez, Maria; Felipe-Rucián, Ana; Moreno-Martínez, David; Lucas-Del-Pozo, Sara; Hernández-Vara, Jorge; García-Serra, Anna; Tigri-Santiña, Ariadna; Moltó-Abad, Marc; Agraz-Pamplona, Irene; Rodriguez-Palomares, Jose F; Limeres-Freire, Javier; Macaya-Font, Marc; Rodríguez-Sureda, Victor; Miguel, Lucy Dougherty-De; Del-Toro-Riera, Mireia; Pintos-Morell, Guillem; Arranz-Amo, Jose Antonio.
Afiliação
  • Carnicer-Cáceres C; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: clara.carnicer@vallhebron.cat.
  • Villena-Ortiz Y; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: yolanda.villena@vallhebron.cat.
  • Castillo-Ribelles L; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: laura.castillo@vallhebron.cat.
  • Barquín-Del-Pino R; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: raquel.barquin@vallhebron.cat.
  • Camprodon-Gomez M; Department of Internal Medicine, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'H
  • Felipe-Rucián A; Department of Pediatric Neurology, Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, 08035 Barcelona, Spain. Electronic address: ana.felipe@vallhebron.cat.
  • Moreno-Martínez D; Department of Internal Medicine, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'H
  • Lucas-Del-Pozo S; Neurodegenerative Diseases Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Department of Neurology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospit
  • Hernández-Vara J; Neurodegenerative Diseases Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Department of Neurology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospit
  • García-Serra A; Neurodegenerative Diseases Laboratory, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: anna.garcia@vhir.org.
  • Tigri-Santiña A; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: atigri@vhebron.net.
  • Moltó-Abad M; Functional Validation & Preclinical Research, Drug Delivery & Targeting Group, CIBIM-Nanomedicine, Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain; Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN
  • Agraz-Pamplona I; Department of Nephrology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: irene.agraz@vallhebron.cat.
  • Rodriguez-Palomares JF; Department of Cardiology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: josefernando.rodriguez@vallhebron.cat.
  • Limeres-Freire J; Department of Cardiology, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: javier.limeres@vallhebron.cat.
  • Macaya-Font M; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: marc.macaya@vhebron.net.
  • Rodríguez-Sureda V; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain; Biochemistry and Molecular Biology Research Centre for Nanomedicine, Hospital Universitari Vall d'Hebron, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: virodriguez
  • Miguel LD; Department of Pediatric Neurology, Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, 08035 Barcelona, Spain. Electronic address: lucy.dougherty@vhir.org.
  • Del-Toro-Riera M; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Department of Pediatric Neurology, Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebr
  • Pintos-Morell G; Unit of Hereditary Metabolic Disorders, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain; Functional Validation & Preclinical Research, Drug Delivery & Targeting Group, CIBIM-Nanomedicine, Vall d'Hebron Instit
  • Arranz-Amo JA; Laboratory of Inborn Errors of Metabolism, Laboratoris Clínics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Passeig Vall d'Hebron 119-129, 08035 Barcelona, Spain. Electronic address: joseantonio.arranz@vallhebron.cat.
Blood Cells Mol Dis ; 98: 102704, 2023 01.
Article em En | MEDLINE | ID: mdl-36265282
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças por Armazenamento dos Lisossomos Tipo de estudo: Diagnostic_studies / Observational_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article