A Brazilian galactosialidosis patient given renal transplantation: A case report

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Kiss, A ^a   Zen, P R G ^a   Bittencourt, V ^b   Paskulin, G A ^a   Giugliani, R ^c,d   D'Azzo, A ^e   Schwartz, I V ^c,d  

^a UNIVERSIDADE FEDERAL DE CIÊNCIAS DA SAÚDE DE PORTO ALEGRE   (Brazil)

^b CHSCPA   (Brazil)

^c FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^d HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

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

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYPEPTIDASE C; CTSA PROTEIN, HUMAN;

ARTICLE; BRAZIL; CASE REPORT; CHILD; CHRONIC KIDNEY FAILURE; DISEASE COURSE; FEMALE; GENETIC PREDISPOSITION; GENETICS; GRAFT SURVIVAL; HUMAN; KIDNEY TRANSPLANTATION; LIVING DONOR; LYSOSOME STORAGE DISEASE; MUTATION; PHENOTYPE; PRESCHOOL CHILD; TIME; TREATMENT OUTCOME;

BRAZIL; CATHEPSIN A; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GRAFT SURVIVAL; HUMANS; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; LIVING DONORS; LYSOSOMAL STORAGE DISEASES; MUTATION; PHENOTYPE; TIME FACTORS; TREATMENT OUTCOME;

EID: 84859919835     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0730-3     Document Type: Article

References (7)

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5. Schiff M, Maire I, Bertrand Y, Cochat P, Guffon N (2005) Longterm follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean? Nephrol Dial Transplant 20:2563-2565.
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7. Van Der Spoel A, Bonten E, D'Azzo A (1998) Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A. EMBO J 17(6):1588-1597.