Sphingolipidoses / 한양의대학술지
Hanyang Medical Reviews
;
: 19-26, 2005.
Artículo
en Coreano
| WPRIM
| ID: wpr-96238
ABSTRACT
Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is available. Their course and appearance, however, are usually characteristic and, together with relevant technical procedures such as magnetic resonance imaging (MRI), clinical neurophysiology, ophthalmologic examination, etc., a provisional diagnosis can be made, after which enzymatic diagnosis can close the gap in the diagnostic process. Subgroups of sphingolipidoses are grouped together, such as disorders with prominent hepatosplenomegaly (Niemann-Pick A, B and Gaucher disease) and disorders with central and peripheral demyelination (metachromic leukodystrophy and Krabbe disease). Farber disease and Fabry disease are unique in themselves. The last decade has seen hopeful progress in therapeutic strategies, especially for Gaucher disease. Therefore, emphasis of this review has been placed on these new developments.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Imagen por Resonancia Magnética
/
Tamizaje Masivo
/
Enfermedades de Niemann-Pick
/
Enfermedades Desmielinizantes
/
Gangliosidosis GM1
/
Enfermedad de Fabry
/
Esfingolipidosis
/
Gangliosidosis GM2
/
Diagnóstico
/
Lipogranulomatosis de Farber
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Idioma:
Coreano
Revista:
Hanyang Medical Reviews
Año:
2005
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS