Results 101 to 110 of about 929 (148)
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Brain and Development, 2004
During the last 5 years 2057 children under the age of 5 with various neurologic symptoms with the suspected diagnosis of lysosomal storage diseases were referred to our hospital from different universities and state hospitals. We were able to separate sphingolipidoses by lysosomal enzyme screening.
Hatice Asuman Ozkara, Meral Topcu
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During the last 5 years 2057 children under the age of 5 with various neurologic symptoms with the suspected diagnosis of lysosomal storage diseases were referred to our hospital from different universities and state hospitals. We were able to separate sphingolipidoses by lysosomal enzyme screening.
Hatice Asuman Ozkara, Meral Topcu
exaly +6 more sources
The Sphingolipidoses and the Eye
JAMA Ophthalmology, 1968The sphingolipidoses constitute a segment of the inborn errors of metabolism in which glycolipids having a sphingosine base accumulate in the tissues. At the ultrastructural level the stored substance forms multimembranous inclusion bodies in lysosomes.
D G, Cogan, T, Kuwabara
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Antenatal Detection of the Sphingolipidoses
New England Journal of Medicine, 1973Antenatal diagnosis in combination with elective termination of pregnancy has become an integral part of the approach to otherwise fatal, inherited disorders. Several of these disorders (termed sphingolipidoses) are characterized by deficient activity of a specific acid hydrolase and the concomitant accumulation of a complex molecule whose catabolism ...
Alan K Percy, A K Percy, Percy Alan K
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Kunihiko Suzuki and sphingolipidoses
Journal of Biochemistry, 2011Kunihiko Suzuki is a neurologist by training whose research accomplishments range widely from basic research in brain lipids, their metabolism to genetic disorders involving the nervous system. Among them are identification of the enzymatic defect, the pathogenetic mechanism, and animal models of Krabbe's globoid cell leukodystrophy, the chemical and ...
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Enzymatic Defects in The Sphingolipidoses
1969Publisher Summary Sphingolipidoses is characterized by the accumulation of excessive quantities of a related family of complex lipids in various tissues of the body. The nature of the metabolic defect is demonstrated in four sphingolipodystrophies.
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Enzyme Replacement Therapy for the Sphingolipidoses
1976The greatest progress in the field of inheritable disorders during the past decade was made in the understanding and control of lipid storage diseases. Since original demonstrations in 1965 and 1966 of the metabolic defects in Gaucher’s disease (6,7) Niemann-Pick disease (8), Fabry’s disease (9), and metachromatic leukodystrophy (17), specific enzyme ...
R O, Brady +8 more
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Metabolic and cellular bases of sphingolipidoses
Biochemical Society Transactions, 2013Lysosomes are cellular stomachs. They degrade macromolecules and release their components as nutrients into the cytosol. Digestion of sphingolipids and other membrane lipids occurs at luminal intraendosomal vesicles and IMs (intraendosomal membranes). Sphingolipid and membrane digestion needs catabolic hydrolases with the help of lipid-binding proteins
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