Cathepsin A deficiency in galactosialidosis: Studies of patients and carriers in 16 families

Pediatric Research

Volumn 39, Issue 6, 1996, Pages 1067-1071

  Kleijer, W J ^a   Geilen, G C ^a   Janse, H C ^a   Van Diggelen, O P ^a   Zhou, Xiao Yan ^c   Galjart, N J ^a   Galjaard, H ^a   D'Azzo, A ^b  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^c SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE; SERINE CARBOXYPEPTIDASE; SIALIDASE;

ADULT; AMNION CELL; ARTICLE; CHORION VILLUS; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; GALACTOSIALIDOSIS; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN BIOPSY;

EID: 0029973096     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199606000-00022     Document Type: Article

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