Bone disease in early detected Gaucher Type I disease: A case report.

Gragnaniello, Vincenza; Burlina, Alessandro P; Manara, Renzo; Cazzorla, Chiara; Rubert, Laura; Gueraldi, Daniela; Toniolli, Ermanno; Quaia, Emilio; Burlina, Alberto B

Gragnaniello, Vincenza; Burlina, Alessandro P; Manara, Renzo; Cazzorla, Chiara; Rubert, Laura; Gueraldi, Daniela; Toniolli, Ermanno; Quaia, Emilio; Burlina, Alberto B.

Afiliación

Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital Padua Italy.
Burlina AP; Neurology Unit St Bassiano Hospital Bassano del Grappa Italy.
Manara R; Department of Neurosciences University Hospital Padua Italy.
Cazzorla C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital Padua Italy.
Rubert L; Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital Padua Italy.
Gueraldi D; Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital Padua Italy.
Toniolli E; Department of Cardiology and Radiology St Bassiano Hospital Bassano del Grappa Italy.
Quaia E; Department of Radiology University Hospital Padua Italy.
Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital Padua Italy.

JIMD Rep ; 63(5): 414-419, 2022 Sep.

Article en En | MEDLINE | ID: mdl-36101816

Palabras clave

Gaucher disease; LysoGb1; bone marrow infiltration; glucosylsphingosine; newborn screening; osteonecrosis

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Screening_studies Idioma: En Revista: JIMD Rep Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos

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