Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis

Orphanet Journal of Rare Diseases

Volumn 9, Issue , 2014, Pages

  Elmonem, Mohamed A ^a   Makar, Samuel H ^a,b   Van Den Heuvel, Lambertus ^c,d   Abdelaziz, Hanan ^a,b   Abdelrahman, Safaa M ^a,b   Bossuyt, Xavier ^c   Janssen, Mirian C ^d   Cornelissen, Elisabeth A M ^d   Lefeber, Dirk J ^d   Joosten, Leo A B ^d   Nabhan, Marwa M ^a,b   Arcolino, Fanny O ^c   Hassan, Fayza A ^a   Gaide Chevronnay, Héloïse P ^e   Soliman, Neveen A ^a,b   Levtchenko, Elena ^c  

^a CAIRO UNIVERSITY   (Egypt)

^b Egyptian Group of Orphan Renal Diseases   (Egypt)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

Chitotriosidase enzyme; Clinical screening; Cysteamine; Cystine crystals; Lysosomal storage disorders; Macrophage activation; Nephropathic cystinosis; Therapeutic monitoring

Indexed keywords

CHITOTRIOSIDASE; CYSTINE; MERCAPTAMINE; TUMOR NECROSIS FACTOR; BETA N ACETYLHEXOSAMINIDASE; BIOLOGICAL MARKER;

ADOLESCENT; ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL LYSATE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTINOSIS; CYTOKINE RESPONSE; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; HUMAN; HUMAN CELL; IN VITRO STUDY; INCUBATION TIME; INFANT; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY FUNCTION; LEUKOCYTE COUNT; MACROPHAGE; MOUSE; NEPHROPATHIC CYSTINOSIS; NONHUMAN; PATHOGENESIS; ANIMAL; CELL CULTURE; CHRONIC KIDNEY FAILURE; ENZYMOLOGY; FEMALE; GENOTYPE; KNOCKOUT MOUSE; MALE; METABOLISM; MIDDLE AGED; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; ANIMALS; BIOMARKERS; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CYSTINE; CYSTINOSIS; FEMALE; GENOTYPE; HEXOSAMINIDASES; HUMANS; INFANT; MACROPHAGES; MALE; MICE; MICE, KNOCKOUT; MIDDLE AGED; RENAL INSUFFICIENCY, CHRONIC; TUMOR NECROSIS FACTOR-ALPHA; YOUNG ADULT;

EID: 85017330571     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0155-z     Document Type: Article

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