Results 1 to 10 of about 2,988 (157)
Arquivos de Neuro-Psiquiatria, 1955 Les lipidoses constituent un groupe d'affections systématisées, caractérisées par une surcharge lipidique des tissus (en premier lieu du système réticulo-endothélial, accessoirement aussi de divers parenchymes).
D. Klein, A. Franceschetti, J. Babel
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Leucodistrofia metacromática: registro de um caso
Arquivos de Neuro-Psiquiatria, 1980 É relatado um caso de leucodistrofia metacromática em paciente com três anos de idade. O exame histopatológico revelou inclusões metacromáticas dentro do citoplasma dos neurônios, o que permite comentar sobre a fisiopatogenia desta doença, grupando-a ...
Osvaldo J. M. Nascimento +3 more
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Journal of the American Oil Chemists' Society, 1967 AbstractFormal genetic analyses of family data in cases of errors of lipid metabolism are able to distin‐guish monogenic vs. multigenic and nongenetic disorders. These data, together with population data, provide criteria for the homogeneity of cases which can be useful in the interpretation of biochemical findings. The peculiarly elevated incidence of
Alfred G. Knudson
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, 2019 Abstract Chapter 83 discusses lipidoses. The lipidoses are genetic diseases caused by enzyme deficiencies, which result in the cellular accumulation of lipids. These abnormal cells infiltrate tissues, including bone marrow, resulting in their dysfunction.
Kevin B. Hoover
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Serum Phosphatase in Lipidoses
Archives of Pediatrics & Adolescent Medicine, 1959 Long before the scientific age in which we live, mankind has striven to evade or to neutralize the mysterious dangers, lurking on all sides, by giving them names through which they may be recognized and identified. This propensity has been rationalized in modern times and one has consciously and proudly pointed to the contributions made by systematic ...
H, SOBOTKA, G, GOLDSTEIN, S, WEISSBARTH
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Lipidomics in diagnosis of lipidoses
, 2008 A review is presented of the major clinical features of a number of glycolipidoses including Fabry, Gaucher, Tay-Sachs, metachromatic leukodystrophy as well as CeroidLipofucinosis and Sjogren-Larsson syndrome. The possibilities offered by lipidomics for diagnosis and follow-up after enzyme replacement therapy are presented from a practical perspective.
C, Wolf, P J, Quinn
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An Enzymological Approach to the Lipidoses
Enzyme, 2017 The abnormal enzymology of Gaucher’s disease, metachromatic leukodystrophy, Fabry’s disease and Tay-Sachs disease is considered in light of recent experiments with highly purified enzymes from human sources. Structural, catalytic, and immunological properties of the enzymes involved are compared with their normal counterparts. The use of purified human
J F, Tallman, P G, Pentchev, R O, Brady
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Cerebral Lipidoses: A Symposium [PDF]
Medical Journal of Australia, 1958 null &NA;
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