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[E.E.G. appearance of the ceroid-lipofuscinoses and metachromatic leucodystrophy (author's transl)]. 1978

M Dumon-Radermecker, and J J Martin, and F J Radermecker

UI MeSH Term Description Entries
D007966 Leukodystrophy, Metachromatic An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms. Arylsulfatase A Deficiency Disease,Cerebroside Sulphatase Deficiency Disease,ARSA Deficiency,Arylsulfatase A Deficiency,Cerebral sclerosis, Diffuse, Metachromatic Form,Cerebroside Sulfatase Deficiency,Greenfield Disease,Greenfield's Disease,Leukodystrophy, Metachromatic, Adult,Leukodystrophy, Metachromatic, Juvenile,Metachromatic Leukodystrophy,Metachromatic Leukodystrophy, Adult,Metachromatic Leukodystrophy, Adult-Type,Metachromatic Leukodystrophy, Infant,Metachromatic Leukodystrophy, Infant-Type,Metachromatic Leukodystrophy, Juvenile,Metachromatic Leukodystrophy, Juvenile-Type,Metachromatic Leukodystrophy, Late Infantile,Metachromatic Leukoencephalopathy,Sulfatide Lipidosis,ARSA Deficiencies,Adult Metachromatic Leukodystrophies,Adult Metachromatic Leukodystrophy,Adult-Type Metachromatic Leukodystrophies,Adult-Type Metachromatic Leukodystrophy,Arylsulfatase A Deficiencies,Cerebroside Sulfatase Deficiencies,Deficiencies, ARSA,Deficiencies, Arylsulfatase A,Deficiencies, Cerebroside Sulfatase,Deficiency, ARSA,Deficiency, Arylsulfatase A,Deficiency, Cerebroside Sulfatase,Infant Metachromatic Leukodystrophies,Infant Metachromatic Leukodystrophy,Infant-Type Metachromatic Leukodystrophies,Infant-Type Metachromatic Leukodystrophy,Juvenile Metachromatic Leukodystrophies,Juvenile Metachromatic Leukodystrophy,Juvenile-Type Metachromatic Leukodystrophies,Juvenile-Type Metachromatic Leukodystrophy,Leukodystrophies, Adult Metachromatic,Leukodystrophies, Adult-Type Metachromatic,Leukodystrophies, Juvenile Metachromatic,Leukodystrophies, Juvenile-Type Metachromatic,Leukodystrophies, Metachromatic,Leukodystrophy, Adult Metachromatic,Leukodystrophy, Adult-Type Metachromatic,Leukodystrophy, Juvenile Metachromatic,Leukodystrophy, Juvenile-Type Metachromatic,Leukoencephalopathies, Metachromatic,Leukoencephalopathy, Metachromatic,Lipidosis, Sulfatide,Metachromatic Leukodystrophies,Metachromatic Leukodystrophies, Adult,Metachromatic Leukodystrophies, Adult-Type,Metachromatic Leukodystrophies, Infant,Metachromatic Leukodystrophies, Infant-Type,Metachromatic Leukodystrophies, Juvenile,Metachromatic Leukodystrophies, Juvenile-Type,Metachromatic Leukodystrophy, Adult Type,Metachromatic Leukodystrophy, Infant Type,Metachromatic Leukodystrophy, Juvenile Type,Metachromatic Leukoencephalopathies,Sulfatase Deficiencies, Cerebroside,Sulfatase Deficiency, Cerebroside
D008064 Lipidoses Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved. Lipidosis,Lipoidosis
D010860 Pigments, Biological Any normal or abnormal coloring matter in PLANTS; ANIMALS or micro-organisms. Biological Pigments
D002540 Cerebral Cortex The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulci. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions. Allocortex,Archipallium,Cortex Cerebri,Cortical Plate,Paleocortex,Periallocortex,Allocortices,Archipalliums,Cerebral Cortices,Cortex Cerebrus,Cortex, Cerebral,Cortical Plates,Paleocortices,Periallocortices,Plate, Cortical
D002566 Ceroid A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions.
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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M Dumon-Radermecker, and J J Martin, and F J Radermecker
[Adult metachromatic leucodystrophy (author's transl)].
January 1978, Acta neurologica Belgica,
M Dumon-Radermecker, and J J Martin, and F J Radermecker
[The E.E.G. and E.M.G. findings in sudanophilic leucodystrophy (author's transl)].
January 1978, Revue d'electroencephalographie et de neurophysiologie clinique,
M Dumon-Radermecker, and J J Martin, and F J Radermecker
[Metachromatic leucodystrophy. A genetic study of a familial adult form of metachromatic leucodystrophy (author's transl)].
January 1974, Archiv fur Psychiatrie und Nervenkrankheiten,
M Dumon-Radermecker, and J J Martin, and F J Radermecker
E.E.G. studies in 22 children with sulphatide lipidosis (metachromatic leucodystrophy).
February 1971, Developmental medicine and child neurology,
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[Prenatal diagnosis of a case of metachromatic leucodystrophy (author's transl)].
April 1975, Deutsche medizinische Wochenschrift (1946),
M Dumon-Radermecker, and J J Martin, and F J Radermecker
[Hereditary hyperammonaemias and their E.E.G. appearance (author's transl)].
January 1978, Revue d'electroencephalographie et de neurophysiologie clinique,
M Dumon-Radermecker, and J J Martin, and F J Radermecker
[The ceroid-lipofuscinoses: ocular ultrastructure and diagnosis by conjunctival biopsy (author's transl)].
January 1977, Archives d'ophtalmologie,
M Dumon-Radermecker, and J J Martin, and F J Radermecker
Funduscopic and angiographic appearance in the neuronal ceroid lipofuscinoses.
May 2009, Retina (Philadelphia, Pa.),
M Dumon-Radermecker, and J J Martin, and F J Radermecker
Metachromatic leucodystrophy.
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Metachromatic leucodystrophy.
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