Angiokeratoma corporis diffusum (Morbus Fabry)

Atzpodien, W.; Gj, Kremer; Schnellbächer, Elisabeth; Denk, R; Haferkamp, G; Bierbach, H

doi:10.1055/s-0028-1106231

Cited by 4 publications

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The method described allows the diagnostic detection of elevated sphingolipids in lipidpses like morbus Fabry (13) and permits further clinical investigations of glycosphingolipid metabolism (4,5). The advantage of this method in clinical investigation is the small plasma volume needed and the estimation of the carbohydrate parts without application of the irritable arid time consuming procedure of gas chromatography.…”

Section: Resultsmentioning

confidence: 99%

Quantitative Determination of Glycosphingolipids in Human Plasma

Atzpodien¹,

Kremer²

1977

Clinical Chemistry and Laboratory Medicine

Self Cite

View full text Add to dashboard Cite

A method is described for the quantitative isolation and estimation of the four glycosphingolipid fractions from 10 ml of human plasma. The procedure consists of acetylation of the total lipids after extraction, separation of acetylated glycosphingolipids from non-glycolipids on a Florisil column, deacetylation, dialysis in water, separation of the single fractions by thin-layer chromatography on silica gel, and quantitative analysis of each glycosphingolipid by sulfuric acid-orcinol reagent, carried out in the presence of silica gel. The concentrations of the four glycosphingolipids in human plasma derived from a group of 23 healthy subjects are presented. The procedure described is sufficiently sensitive for clinical investigation. Quantitative Bestimmung der Glycosphingolipide im menschlichen BlutplasmaZusammenfassung: Über eine Methode zur quantitativen Isolierung und Bestimmung der vier neutralen Glycosphingolipidfraktionen aus 10 ml menschlichem Blutplasma wird berichtet. Das Verfahren besteht aus: Acetylierung der extrahierten Gesamtlipide, Abtrennung der acetylierten Glycosphingolipide durch Säulenchromatographie an Florisil, Deacetylierung, Dialyse gegen Wasser, Auftrennung der einzelnen Fraktionen durch Dünnschichtchromatographie auf Kieselgelplatten und quantitative Bestimmung der verschiedenen Glycosphingolipide im Schwefelsäure-Orcinol-Test in Gegenwart von Kieselgel. Die ermittelten Konzentrationen der vier Glycosphingolipide in einem Kollektiv von 23 gesunden Personen werden mitgeteilt. Das beschriebene Verfahren ist empfindlich und geeignet für klinische Untersuchungen.

show abstract

Section: Resultsmentioning

confidence: 99%

Quantitative Determination of Glycosphingolipids in Human Plasma

Atzpodien¹,

Kremer²

1977

Clinical Chemistry and Laboratory Medicine

Self Cite

View full text Add to dashboard Cite

show abstract

Plasmaglykosphingolipide bei Hyperlipoproteinämien

Atzpodien¹,

Kremer²

1975

Verhandlungen Der Deutschen Gesellschaft Für Innere Medizin

View full text Add to dashboard Cite

Ultrastructure of muscle and sensory nerve in Fabry's disease

1977

View full text Add to dashboard Cite

A study of a muscle biopsy has provided evidence of storage involvement of the skeletal muscle fibres in Fabry's disease. In the endothelial cells of the capillaries, the inclusions were more abundant and pleomorphic. Muscle satellite cells were spared. In the sensory nerve biopsy, the perineurial and endothelial cells contained lamillar bodies, but not the Schwann cells. There was a slight reduction of the number of the small myelinated fibres and of the unmyelinated fibres. An electron microscopic study of a muscle biopsy can be helpful in the diagnosis of the disease. The physiopathology of the pain attacks is still a matter for discussion.

show abstract

Angiokeratoma corporis diffusum (Morbus Fabry)

Cited by 4 publications

References 0 publications

Quantitative Determination of Glycosphingolipids in Human Plasma

Quantitative Determination of Glycosphingolipids in Human Plasma

Plasmaglykosphingolipide bei Hyperlipoproteinämien

Ultrastructure of muscle and sensory nerve in Fabry's disease

Contact Info

Product

Resources

About