Primary hyperoxaluria type 1 with a novel mutation.
Indian J Pediatr
;
2009 Feb; 76(2): 215-7
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Hiperoxaluria Primaria
/
Femenino
/
Humanos
/
Masculino
/
Oxalato de Calcio
/
Mutación Puntual
/
Galactosiltransferasas
/
Lactante
/
Riñón
/
Nefrocalcinosis
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2009
Tipo del documento:
Artículo
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