1.
Article
de Anglais
| IMSEAR
| ID: sea-90285
2.
Indian J Pathol Microbiol
; 2001 Jul; 44(3): 339-40
Article
de Anglais
| IMSEAR
| ID: sea-73730
RÉSUMÉ
We report a case, with foamy histocytes in the bone marrow and eye movement abnormalities which is characteristic for Niemann Pick disease Type-C.
Sujet(s)
Moelle osseuse/anatomopathologie , Enfant , Femelle , Histiocytes/anatomopathologie , Humains , Maladies de Niemann-Pick/classification
3.
Indian J Pediatr
; 1993 Jul-Aug; 60(4): 583-90
Article
de Anglais
| IMSEAR
| ID: sea-82842
RÉSUMÉ
Niemann-Pick group of diseases are rare autosomal recessive disorders of lysosomal enzymes. These are divisible into six types depending on clinical and biochemical features. On the basis of sphingomyelinase assay in five cases of Niemann-Pick disease, three cases were classified as type IA, one as type IS and one as type IIS. Their clinicopathological profiles are compared with 17 cases reported previously from India.
Sujet(s)
Adolescent , Enfant , Enfant d'âge préscolaire , Tests enzymatiques en clinique , Femelle , Humains , Nourrisson , Nouveau-né , Mâle , Maladies de Niemann-Pick/classification , Sphingomyeline phosphodiesterase/analyse
4.
Indian Pediatr
; 1976 May; 13(5): 375-8
Article
de Anglais
| IMSEAR
| ID: sea-14467