Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.

Filocamo, Mirella; Tomanin, Rosella; Bertola, Francesca; Morrone, Amelia

Filocamo, Mirella; Tomanin, Rosella; Bertola, Francesca; Morrone, Amelia.

Afiliación

Filocamo M; Laboratorio di Genetica Molecolare e Biobanche, Istituto G. Gaslini, Genova, Italy. mirellafilocamo@gaslini.org.
Tomanin R; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padova, Italy.
Bertola F; School of Medicine and Surgery, University of Milano Bicocca, Monza, Italy.
Morrone A; Neuroscience Department, Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Meyer Children's Hospital, University of Florence, Florence, Italy.

Ital J Pediatr ; 44(Suppl 2): 129, 2018 Nov 16.

Article en En | MEDLINE | ID: mdl-30442161

Asunto(s)

Mucopolisacaridosis/genética; Mucopolisacaridosis/metabolismo; Niño; Glicosaminoglicanos/metabolismo; Humanos; Hidrolasas/genética; Mucopolisacaridosis/diagnóstico

Palabras clave

Genetic counselling; Genotype-phenotype relationship; Glycosaminoglycans; Laboratory tests; Lysosomal storage disorders; Molecular analysis; Mucopolysaccharides; Pseudodeficiency

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mucopolisacaridosis Tipo de estudio: Diagnostic_studies / Qualitative_research Límite: Child / Humans Idioma: En Revista: Ital J Pediatr Asunto de la revista: PEDIATRIA Año: 2018 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido

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