Factors influencing clinical outcome in patients with primary hyperoxaluria type 1.
Kidney Int
; 86(6): 1074-6, 2014 Dec.
Article
em En
| MEDLINE
| ID: mdl-25427081
ABSTRACT
The renal outcome in patients with primary hyperoxaluria type 1 is partly determined by AGXT mutations, including but not limited to the p.Gly170Arg mutation. The study by Mandrile et al. reports on the largest cohort of patients genotyped yet, with long-term renal survival and medical treatment by pyridoxine. In addition to the common p.Gly170Arg mutation, three other mutations were shown to be potentially associated with slower evolution.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hiperoxalúria Primária
/
Transaminases
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Falência Renal Crônica
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Mutação
Limite:
Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article