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BH4 Patient
List of associated diseases and any hint to further information based on the descripton or synonyms to the accession number HMDB04958
Tetrahexosylceramide (d18:1/12:0)
A glycosphingolipid (ceramide and oligosaccharide)or oligoglycosylceramide with one or more sialic acids (i.e. n-acetylneuraminic acid) linked on the sugar chain. Tetrahexosylceramide contains a tetrasaccharide moiety bound in glycosidic linkage to the hydroxyl group of ceramide as the polar head group. It is a component the cell plasma membrane which modulates cell signal transduction events. Gangliosides have been found to be highly important in immunology. Ganglioside Gb4 carries a net-negative charge at pH 7.0 and is acidic. Gangliosides can amount to 6% of the weight of lipids from brain, but they are found at low levels in all animal tissues.
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ABETALIPOPROTEINEMIA, BASSEN-KORNZWEIG-SYNDROME, ACANTHOCYTOSIS (ABL)
CONGENITAL ERYTHTOPOIETIC PORPHYRIA (CEP, GÜNTHER DISEASE)
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