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A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 63, doi. 10.1023/A:1005603014401
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- Publication type:
- Article
Glycosphingolipid degradation and animal models of GM2-gangliosidoses.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 548, doi. 10.1023/A:1005419122018
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- Publication type:
- Article
Juvenile G-Gangliosidose mit veränderter Substratspezifität der Hexosaminidase A.
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- Acta Neuropathologica, 1974, v. 27, n. 3, p. 225, doi. 10.1007/BF00687632
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- Publication type:
- Article
Induction of apoptosis by synthetic ceramide analogues in the human keratinocyte cell line HaCaT.
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- Experimental Dermatology, 1998, v. 7, n. 6, p. 342, doi. 10.1111/j.1600-0625.1998.tb00334.x
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- Article
Sphingolipid Metabolism: Sphingoid Analogs, Sphingolipid Activator Proteins, and the Pathology of the Cell<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1998, v. 845, n. 1, p. 139, doi. 10.1111/j.1749-6632.1998.tb09667.x
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- Publication type:
- Article
Reduced rates of axonal and dendritic growth in embryonic hippocampal neurones cultured from a mouse model of Sandhoff disease.
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- Neuropathology & Applied Neurobiology, 2003, v. 29, n. 4, p. 341, doi. 10.1046/j.1365-2990.2003.00455.x
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- Article
Incorporation of labelled glucose into the individual major gangliosides of the brain of young rats.
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- Journal of Neurochemistry, 1969, v. 16, n. 8, p. 1279, doi. 10.1111/j.1471-4159.1969.tb05977.x
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- Publication type:
- Article
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
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- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 2, p. 203, doi. 10.1007/s10545-005-5671-5
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- Publication type:
- Article
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.
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- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 649, doi. 10.1023/B:BOLI.0000042959.44318.7c
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- Article
Ganglioside biosynthesis in Golgi apparatus: New perspectives on its mechanism.
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- Journal of Neuroscience Research, 1984, v. 12, n. 2/3, p. 161, doi. 10.1002/jnr.490120205
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- Publication type:
- Article
Melittin Stimulates Incorporation and Degradation of Sphingomyelin in Synaptosomal Plasma Membranes.
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- Journal of Neurochemistry, 1982, v. 38, n. 5, p. 1230, doi. 10.1111/j.1471-4159.1982.tb07895.x
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- Publication type:
- Article
Halothane Increases Membrane Fluidity and Stimulates Sphingomyelin Degradation by Membrane-Bound Neutral Sphingomyelinase of Synaptosomal Plasma Membranes from Calf Brain Already at Clinical Concentrations.
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- Journal of Neurochemistry, 1980, v. 34, n. 4, p. 988, doi. 10.1111/j.1471-4159.1980.tb09675.x
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- Publication type:
- Article
ENZYME ALTERATIONS AND LIPID STORAGE IN THREE VARIANTS OF TAY-SACHS DISEASE.
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- Journal of Neurochemistry, 1971, v. 18, n. 12, p. 2469, doi. 10.1111/j.1471-4159.1971.tb00204.x
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- Publication type:
- Article
AGE-DEPENDENT VARIATIONS OF THE HUMAN N-ACETYL-β-D-HEXOSAMINIDASES.
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- Journal of Neurochemistry, 1971, v. 18, n. 11, p. 2041, doi. 10.1111/j.1471-4159.1971.tb05063.x
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- Publication type:
- Article
IMMUNOLOGICAL STUDIES ON SPHINGOLIPID ACTIVATOR PROTEINS IN THE NEURONAL CEROID-LIPOFUSCINOSES.
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- Gerontology, 1995, v. 41, n. S2, p. 239, doi. 10.1159/000213746
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- Publication type:
- Article
Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses.
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- 1995
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- Publication type:
- journal article
A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay–Sachs disease.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 15, p. 2113, doi. 10.1093/hmg/ddi216
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- Publication type:
- Article
SUSPECTED MILD ADULT SAP-B DEFICIENCY.
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- 1999
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- Publication type:
- Abstract
Biochemical Basis of Late-Onset Neurolipidoses.
- Published in:
- Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 197, doi. 10.1159/000112160
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- Publication type:
- Article
Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological Disorders.
- Published in:
- Developmental Neuroscience, 1983, v. 6, n. 1, p. 58, doi. 10.1159/000112332
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- Publication type:
- Article