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Familial neurovisceral lipidosis. 1968

B D Lake

UI MeSH Term Description Entries
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
D005189 False Positive Reactions Positive test results in subjects who do not possess the attribute for which the test is conducted. The labeling of healthy persons as diseased when screening in the detection of disease. (Last, A Dictionary of Epidemiology, 2d ed) False Positive Reaction,Positive Reaction, False,Positive Reactions, False,Reaction, False Positive,Reactions, False Positive
D006025 Glycosaminoglycans Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine (see ACETYLGLUCOSAMINE) or N-acetylgalactosamine (see ACETYLGALACTOSAMINE). Glycosaminoglycan,Mucopolysaccharides
D006651 Histocytochemistry Study of intracellular distribution of chemicals, reaction sites, enzymes, etc., by means of staining reactions, radioactive isotope uptake, selective metal distribution in electron microscopy, or other methods. Cytochemistry
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

B D Lake
Familial neurovisceral lipidosis.
September 1967, The Journal of pediatrics,
B D Lake
Cardiac lesions in a patient with familial neurovisceral lipidosis (generalized gangliosidosis).
February 1971, American journal of clinical pathology,
B D Lake
Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis).
November 1978, Annals of neurology,
B D Lake
Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C.
January 1983, Virchows Archiv. A, Pathological anatomy and histopathology,
B D Lake
Juvenile dystonic lipidosis: an unusual form of neurovisceral storage disease.
January 1977, Neurology,
B D Lake
Familial cardiac lipidosis.
January 1974, Birth defects original article series,
B D Lake
Adult dystonic lipidosis: clinical, histologic, and biochemical findings of a neurovisceral storage disease.
November 1982, Neurology,
B D Lake
FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT".
November 1964, American journal of diseases of children (1960),
B D Lake
[Niemann-Pick disease type C (subacute neurovisceral lipidosis). Problems of altered sphingomyelinase activity in the brain (author's transl)].
January 1981, Archiv fur Psychiatrie und Nervenkrankheiten,
B D Lake
[The multiformity of curvilinear bodies in biopsies from brain, liver and bone marrow in neurovisceral lipidosis (author's transl)].
January 1971, Verhandlungen der Deutschen Gesellschaft fur Pathologie,
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