Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Elisa, Queirós"'
Publikováno v:
Jornal de Pediatria. 78:517-22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::150d2bd69fa04229f7cfa52b520d93db
https://doi.org/10.2223/jped.909
https://doi.org/10.2223/jped.909
Publikováno v:
Jornal de pediatria. 78(6)
Gaucher disease is an autosomal recessive lysosomal storage disease, caused by mutation to the GBA gene (glucocerebrosidase gene) located on chromosome 1. The objective of the present study was to identify the clinical, nutritional, biochemical and g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c2b9abdefc17001d6ca8946d0a6942cc
https://pubmed.ncbi.nlm.nih.gov/14647734
https://pubmed.ncbi.nlm.nih.gov/14647734
Publikováno v:
Jornal de Pediatria, Vol 78, Iss 6, Pp 517-522 (2002)
Jornal de Pediatria v.78 n.6 2002
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Jornal de Pediatria, Volume: 78, Issue: 6, Pages: 517-522, Published: DEC 2002
Jornal de Pediatria v.78 n.6 2002
Jornal de Pediatria
Sociedade Brasileira de Pediatria (SBP)
instacron:SBPE
Jornal de Pediatria, Volume: 78, Issue: 6, Pages: 517-522, Published: DEC 2002
Objetivo: a doença de Gaucher (DG) é uma doença de depósito lisossomal, de herança autossômica recessiva, causada por mutações do gene GBA (gene da glucocerebrosidase), localizado no cromossomo 1. O presente estudo foi realizado para identifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccf6f7daa8a7fd493ce7fd2ddf3cf9c4
https://doi.org/10.1590/s0021-75572002000600013
https://doi.org/10.1590/s0021-75572002000600013