Determination of the lysosomal hydrolase activity in blood collected on filter paper, an alternative to screen high risk populations.

Castilhos, Cristina D; Mezzalira, Jamila; Goldim, Mariana P S; Daitx, Vanessa V; Garcia, Cristina da S; Andrade, Carla V; Breier, Ana C; Cé, Jaqueline; Mello, Alexandre S; Coelho, Janice C

Castilhos, Cristina D; Mezzalira, Jamila; Goldim, Mariana P S; Daitx, Vanessa V; Garcia, Cristina da S; Andrade, Carla V; Breier, Ana C; Cé, Jaqueline; Mello, Alexandre S; Coelho, Janice C.

Afiliación

Castilhos CD; Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Mezzalira J; Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Goldim MP; Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Daitx VV; Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Garcia Cda S; Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Andrade CV; Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Breier AC; Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Cé J; Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Mello AS; Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Coelho JC; Postgraduate Program, Biochemistry Department, Lysosomal Storage Diseases Testing Laboratory, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address: janice.coelho@ufrgs.br.

Gene ; 536(2): 344-7, 2014 Feb 25.

Article en En | MEDLINE | ID: mdl-24342658

Asunto(s)

Hidrolasas/metabolismo; Enfermedades por Almacenamiento Lisosomal/diagnóstico; Lisosomas/enzimología; Lisosomas/metabolismo; Recolección de Muestras de Sangre; Femenino; Humanos; Enfermedades por Almacenamiento Lisosomal/enzimología; Enfermedades por Almacenamiento Lisosomal/metabolismo; Masculino; Tamizaje Masivo/métodos

Palabras clave

ASB; Alpha-galactosidase A; Alpha-glucosidase; Alpha-iduronidase; Arylsulphatase B; DBS; Dried blood spots collected on filter paper; Dried blood spots on filter paper; GAA; GAL; IDUA; LC/MS/MS; LSDs; Liquid chromatography combined with tandem mass spectrometry; Lysosomal storage diseases; Lysosomal storage disorders; MPS I; MPS VI; Mucopolysaccharidosis type I; Mucopolysaccharosis type VI; ROC; Receiver Operating Characteristics; Screening high risk populations

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades por Almacenamiento Lisosomal / Hidrolasas / Lisosomas Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans / Male Idioma: En Revista: Gene Año: 2014 Tipo del documento: Article País de afiliación: Brasil

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