Screening of lysosomal storage disorders: Application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis i

European Journal of Mass Spectrometry

Volumn 19, Issue 6, 2013, Pages 497-503

  Ombrone, Daniela ^a,b   Malvagia, Sabrina ^a   Funghini, Silvia ^a   Giocaliere, Elisa ^a   Della Bona, Maria Luisa ^a   Forni, Giulia ^a   De Luca, Alessio ^a   Villanelli, Fabio ^a   Casett, Bruno ^c   Guerrini, Renzo ^a   La Marca, Giancarlo ^a,b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c MDS SCIEX   (Canada)

Author keywords

A l iduronidase; Dried blood spot; Lysosomal storage disorders; Mucopolysaccharidosis type I; Online trapping; Tandem mass spectrometry

Indexed keywords

BLOOD; DIAGNOSIS; ENZYME ACTIVITY; MASS SPECTROMETRY;

A-L-IDURONIDASE; DRIED BLOOD SPOTS; LYSOSOMAL STORAGE DISORDER; ON-LINE TRAPPING; TANDEM MASS SPECTROMETRY;

LIQUID CHROMATOGRAPHY;

LEVO IDURONIDASE;

BLOOD; CHEMISTRY; CLINICAL TRIAL; DRIED BLOOD SPOT TESTING; HUMAN; LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; MUCOPOLYSACCHARIDOSIS I; NEWBORN; NEWBORN SCREENING; PROCEDURES; REPRODUCIBILITY; STANDARDS; VALIDATION STUDY; ARTICLE; HURLER SYNDROME; METHODOLOGY; STANDARD;

CHROMATOGRAPHY, LIQUID; DRIED BLOOD SPOT TESTING; HUMANS; IDURONIDASE; INFANT, NEWBORN; MASS SPECTROMETRY; MUCOPOLYSACCHARIDOSIS I; NEONATAL SCREENING; REPRODUCIBILITY OF RESULTS;

EID: 84893100833     PISSN: None     EISSN: 17516838     Source Type: Journal    
DOI: 10.1255/ejms.1257     Document Type: Article

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