Gerd Geilen

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Since the introduction in 1990 of a novel fluorogenic substrate for galactose-6-sulphate sulphatase we have used this substrate for prospective prenatal diagnosis in 10 pregnancies at risk for Morquio disease type A. Chorionic villi were analysed in five cases. The results indicated an affected fetus in one pregnancy which represents the first case of(More)
We have investigated the use of a 4-methylumbelliferone (MU)-derived artificial substrate, MU-alpha-D-N-sulphoglucosaminide, for the sulphamidase assay in chorionic villi and amniotic fluid cells. In the new two-step enzyme assay, fluorescent MU is released by the successive action of endogenous sulphamidase and an added yeast enzyme preparation which(More)
Deficiency of lysosomal protective protein/cathepsin A in humans is the primary cause of galactosialidosis, a lysosomal storage disease characterized by combined deficiency of beta-galactosidase and neuraminidase. We have investigated 20 galactosialidosis patients and nine of their obligate heterozygous parents. A group of 12 patients with the early(More)
A new fluorogenic substrate, 4-methylumbelliferyl beta-D-glucosaminide, was used for the assay of acetyl CoA:glucosaminide N-acetyltransferase in chorionic villi, cultured villus cells, and amniocytes. Optimal conditions for the assay and the ranges of enzyme activity were established for the various types of fetal cells. This simple fluorometric assay(More)
OBJECTIVE Enzyme assays for the diagnosis of lysosomal storage diseases have been underway in China only in a few laboratories, and the specimens for enzyme assay must not be inactivated by environmental factors. To solve the problem, the stability of freeze-drying lysosomal enzymes was tested. METHODS Three pools for samples were set up: control(More)
9 Wolfgang Pilz: Rechtsfragen und forensische Probleme der zahn~irztliehen l~raxis. MJt einem Geleitwort yon OTTO PROXOP. (Zahn/~rztl. For tb i ldung. Hrsg. yon E. REICHENBACH. H. 15.) Leipzig: J o h a n n Ambrosius Bar th 1963. V I I I , I65 S., i I 4 Abb. u. 4 Tab. Geb. DM 20.. ])as Buch fiillt eine Liieke aus. Wie O. P~OKOr in seinem Vorwort ausfiihrt,(More)
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