Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring

Clinical Biochemistry

Volumn 46, Issue 18, 2013, Pages 1804-1807

  Irun P ^a,b,c   Alfonso, P ^b,c   Aznarez, S ^a   Giraldo, P ^b,c,d   Pocovi, M ^a,b  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c INSTITUTO DE INVESTIGACIÓN SANITARIA ARAGÓN IIS ARAGÓN   (Spain)

^d HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

Author keywords

4MU chitotrioside; CHIT1; Chitotriosidase; Enzyme replacement therapy; Gaucher disease; Polymorphisms

Indexed keywords

CHITOTRIOSIDASE; GENOMIC DNA;

ADOLESCENT; ADULT; AGAR GEL ELECTROPHORESIS; AGED; ARTICLE; CHILD; ENZYME ACTIVITY; ENZYME REPLACEMENT; FEMALE; GAUCHER DISEASE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEWBORN; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

4-METHYLUMBELLIFERYL-Β-D-N,N′,N″TRIACETYLCHITOTRIOSIDE; 4MU-CHITOTRIOSIDE; BASE PAIRS; BP; C.1049_1072DUP24; CHIT1; CHITOTRIOSIDASE; CHT; DUP24; ENZYME REPLACEMENT THERAPY; EOW; ERT; EVERY OTHER WEEK; GAUCHER DISEASE; GD; HET102; HETDUP24; HETEROZYGOUS FOR DUP24; HETEROZYGOUS FOR P.G102S; HOMO102; HOMOZYGOUS FOR P.G102S; NEG102; NEGATIVE FOR DUP24; NEGATIVE FOR P.G102S; NEGDUP24; POLYMORPHISMS; SEVERITY SCORE INDEX; SSI;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; ENZYME REPLACEMENT THERAPY; FEMALE; GAUCHER DISEASE; GENE FREQUENCY; HETEROZYGOTE; HEXOSAMINIDASES; HUMANS; INFANT; MALE; POLYMORPHISM, GENETIC; SPAIN; YOUNG ADULT;

EID: 84889657647     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2013.09.006     Document Type: Article

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