First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene

Clinica Chimica Acta

Volumn 413, Issue 23-24, 2012, Pages 1827-1831

  Paciotti, Silvia ^a   Persichetti, Emanuele ^a   Pagliardini, Severo ^b   Deganuto, Marta ^c   Rosano, Camillo ^d   Balducci, Chiara ^a   Codini, Michela ^a   Filocamo, Mirella ^e   Menghini, Anna Rita ^a   Pagliardini, Veronica ^f   Pasqui, Silvio ^g   Bembi, Bruno ^c   Dardis, Andrea ^c   Beccari, Tommaso ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e G GASLINI INSTITUTE   (Italy)

^f UNIVERSITY OF TURIN   (Italy)

^g NONE   (Italy)

Author keywords

Acid galactosidase; Acid glucosidase; Lysosomal storage diseases; Newborn screening; Glucosidase; L Iduronidase

Indexed keywords

BETA GLUCOSIDASE; GLUCOSYLCERAMIDASE;

ARTICLE; ASYMPTOMATIC DISEASE; CONTROLLED STUDY; COST CONTROL; DRIED BLOOD SPOT TESTING; ENZYME ACTIVITY; ENZYME ASSAY; FABRY DISEASE; FEASIBILITY STUDY; FEMALE; GAUCHER DISEASE; GBA GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 2; HETEROZYGOSITY; HUMAN; HUMAN CELL; HURLER SYNDROME; IN VITRO STUDY; ITALY; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; PILOT STUDY; PRIORITY JOURNAL; WILD TYPE; CELL STRAIN HEK293; ENZYMOLOGY; GENETICS; LYSOSOME STORAGE DISEASE; METABOLISM; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE;

DNA MUTATIONAL ANALYSIS; FEMALE; GLUCOSYLCERAMIDASE; HEK293 CELLS; HUMANS; INFANT, NEWBORN; ITALY; LYSOSOMAL STORAGE DISEASES; MALE; MUTATION; NEONATAL SCREENING; PILOT PROJECTS;

EID: 84864819731     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2012.07.011     Document Type: Article

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