I-cell disease (Mucolipidosis II).
Indian J Pediatr
;
2000 Sep; 67(9): 683-7
Artículo
en Inglés
| IMSEAR
| ID: sea-80329
ABSTRACT
I-cell disease (Mucolipidosis II) is one of the lysosomal storage diseases which presents in the neonatal period, and within six months will phenotypically resemble the severe forms of the group of disorders called the "mucopolysaccharidoses" but without mucopolysacchariduria. In Mucolipidosis II, fibrocytes exhibit "abnormal lysosomes". Activities of several lysosomal enzymes are low in fibroblast cultures but high in mucolipidosis II serum. We present a patient with I-cell disease diagnosed on the basis of clinical, radiological and biochemical features. The mother of this child was pregnant and the fetus was also found to be affected.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Pronóstico
/
Beta-N-Acetilhexosaminidasas
/
Femenino
/
Humanos
/
Embarazo
/
Preescolar
/
Enfermedades Fetales
/
Mucolipidosis
Tipo de estudio:
Estudio pronóstico
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2000
Tipo del documento:
Artículo
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