Concept information
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Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Término preferido
Sea-Blue Histiocyte Syndrome
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Tipo
-
mesh:Descriptor
Definición
- A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.
Concepto genérico
Etiquetas alternativas
- Histiocyte Syndrome, Sea Blue
- Histiocyte Syndromes, Sea Blue
- Histiocytosis, Sea-Blue
- Sea Blue Histiocytosis
- Sea-Blue Histiocyte Disease
- Sea-Blue Histiocytosis
En otras lenguas
URI
http://data.loterre.fr/ark:/67375/JVR-D7JTHJPX-V
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