Primary hyperoxaluria type 1 with a novel mutation.
Indian J Pediatr
;
2009 Feb; 76(2): 215-7
Artigo
em Inglês
| IMSEAR
| ID: sea-79666
ABSTRACT
Primary hyperoxaluria type 1 [PH1] is an autosomal recessive disorder caused by a deficiency of alanine-glyoxylate aminotransferase AGT, which is encoded by the AGXT gene. We report an Indian family with two affected siblings having a novel mutation in the AGXT gene inherited from the parents. The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Hiperoxalúria Primária
/
Feminino
/
Humanos
/
Masculino
/
Oxalato de Cálcio
/
Mutação Puntual
/
Galactosiltransferases
/
Lactente
/
Rim
/
Nefrocalcinose
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2009
Tipo de documento:
Artigo
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