Critical issues for the proper diagnosis of Metachromatic Leukodystrophy

Gene

Volumn 537, Issue 2, 2014, Pages 348-351

  Lorioli, Laura ^a,b,c   Cesani, Martina ^a   Regis, Stefano ^d   Morena, Francesco ^e   Grossi, Serena ^d   Fumagalli, Francesca ^b   Acquati, Serena ^a   Redaelli, Daniela ^a   Pini, Antonella ^f   Sessa, Maria ^b   Martino, Sabata ^e   Filocamo, Mirella ^d   Biffi, Alessandra ^a,b  

^a SAN RAFFAELE SCIENTIFIC INSTITUTE   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e UNIVERSITY OF PERUGIA   (Italy)

^f RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

Author keywords

Arylsulfatase A; Enzymatic activity; Metachromatic Leukodystrophy; Molecular diagnosis

Indexed keywords

4 NITROCATECHOL; ACETIC ACID; DIETHYLAMINOETHYL CELLULOSE; GENOMIC DNA; PHOSPHATE BUFFERED SALINE; SULFATE;

ALLELE; ARTICLE; CASE REPORT; CELL LYSATE; CHEMICAL ANALYSIS; CHILD; CHROMATOGRAPHY; COGNITIVE DEFECT; DNA EXTRACTION; ENZYME ACTIVITY; FEMALE; GENE SEQUENCE; HUMAN; HUMAN CELL; LEUKOCYTE; METACHROMATIC LEUKODYSTROPHY; PHYSIOLOGICAL PROCESS; PRACTICE GUIDELINE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIBLING;

4-METHYL-UMBELLIPHERYL-SULFATE; 4-MUS; ARSA; ARSB; ARYLSULFATASE A; ARYLSULFATASE B; DEAE CELLULOSE CHROMATOGRAPHY; DIETHYLAMINOETHYL CELLULOSE CHROMATOGRAPHY; ENZYMATIC ACTIVITY; HD; HEALTHY DONOR; MAGNETIC RESONANCE IMAGING; METACHROMATIC LEUKODYSTROPHY; MLD; MOLECULAR DIAGNOSIS; MRI; P-NCS; P-NITROCATECHOL SULFATE; PD ALLELE; PSEUDODEFICIENCY ALLELE; SAPB; SAPOSIN B; SIB; SIBLING;

ALLELES; CEREBROSIDE-SULFATASE; FEMALE; HETEROZYGOTE; HUMANS; INFANT; LEUKODYSTROPHY, METACHROMATIC; MALE;

EID: 84893669115     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.11.062     Document Type: Article

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