Skip to main

Medical Subject Headings (thesaurus)

Search from vocabulary

mapear
anotar
descargar

Concept information

... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Leukodystrophy, Globoid Cell
Nervous System Diseases > Demyelinating Diseases > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Leukoencephalopathies > Hereditary Central Nervous System Demyelinating Diseases > Leukodystrophy, Globoid Cell

Término preferido

Leukodystrophy, Globoid Cell  

Notice: Undefined index: in /var/www/html/model/Concept.php on line 545

Tipo

  • mesh:Descriptor

Definición

  • An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Diffuse Globoid Body Sclerosis
  • Galactocerebrosidase Deficiency
  • Galactosylceramidase Deficiency Disease
  • Galactosylceramide beta-Galactosidase Deficiency
  • Galactosylceramide Lipidosis
  • Galactosylceramide-beta-Galactosidase Deficiency Disease
  • Galactosylcerebrosidase Deficiency
  • Galactosylsphingosine Lipidosis
  • GALC Deficiency
  • Globoid Body Sclerosis, Diffuse
  • Globoid Cell Leukodystrophy
  • Globoid Cell Leukoencephalopathy
  • Globoid Leukodystrophy
  • Krabbe Disease
  • Krabbe Leukodystrophy
  • Krabbe's Disease
  • Krabbe's Leukodystrophy
  • Psychosine Lipidosis

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-N80FWJKX-2

Descargue este concepto:

RDF/XML TURTLE JSON-LD Creado 1/1/99, última modificación 1/7/21