49 research outputs found
Two Heat-Stable Low-Molecular-Mass Proteins Stimulating the Enzymic Sphingomyelin Degradation Isolated from Human Gaucher and Normal Spleen
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Biochemical, genetic, psychometric, and neuropsychological studies in heterozygotes of a family with globoid cell leucodystrophy (Krabbe's disease)
No full textLYSOSOMAL ACID LIPASE DEFICIENCY IN GREECE: A RARE INBORN ERROR OF METABOLISM PRESENTING WITH DYSLIPIDAIMIA AND LIVER DISEASE
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CHOLESTERYL ESTER STORAGE DISEASE (ACID LIPASE DEFICIENCY): ANOTHER FACTOR FOR EARLY ATHEROSCLEROSIS DISEASE. EXPERIENCE FROM THE GREEK POPULATION
No full textClinical and Neurophysiological Changes in Carriers from a Family with Type O Chronic GM2-Gangliosidosis with Als Phenotype
No full textN-Terminal Amino-Acid Sequence of a Sphingolipid Activator Protein Missing in a New Human Gaucher Disease Variant
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