A fortuitous but characteristic blood smear observation allowing a late diagnosis of MPS-VII.

Goudji, Cedrick W; Schick, Tobias; Cherkaoui, Sara; Camaiani, Massimo; Dewulf, Joseph P; Nassogne, Marie-Cecile; Chevalier, Charles

Goudji, Cedrick W; Schick, Tobias; Cherkaoui, Sara; Camaiani, Massimo; Dewulf, Joseph P; Nassogne, Marie-Cecile; Chevalier, Charles.

Afiliación

Goudji CW; Hematology Unit, Department of Clinical Biology, CHU Charleroi, Lodelinsart, Belgium.
Schick T; General Surgery Department, CHU Charleroi, Lodelinsart, Belgium.
Cherkaoui S; Hematology Unit, Department of Clinical Biology, CHU Charleroi, Lodelinsart, Belgium.
Camaiani M; Department of Clinical Chemistry, Laboratoire Hospitalier Universitaire de Bruxelles (LHUB-ULB), Université Libre de Bruxelles (ULB), Brussels, Belgium.
Dewulf JP; Department of Laboratory Medicine, University Hospital St. Luc, UCLouvain, Bruxelles, Belgium.
Nassogne MC; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Chevalier C; Hematology Unit, Department of Clinical Biology, CHU Charleroi, Lodelinsart, Belgium.

Clin Chem Lab Med ; 60(3): 85-87, 2022 02 23.

Article en En | MEDLINE | ID: mdl-34913623

Asunto(s)

Diagnóstico Tardío; Mucopolisacaridosis VII; Glucuronidasa/genética; Humanos; Mucopolisacaridosis VII/diagnóstico; Fenotipo

Palabras clave

AlderReilly; MPS-VII; Sly syndrome; beta-glucuronidase; mucopolysaccharidosis; valvulopathy

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Mucopolisacaridosis VII / Diagnóstico Tardío Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Clin Chem Lab Med Asunto de la revista: QUIMICA CLINICA / TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2022 Tipo del documento: Article País de afiliación: Bélgica

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