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Possibilit 6 s et limitations dans le diagnostic prCnatal de maladies gCn 6 tiques
O. Lowry, N. Rosebrough, A. Farr, R. Randall (1951)
Protein measurement with the Folin phenol reagent.The Journal of biological chemistry, 193 1
J. Clarke, J. Knaack, J. Crawhall, L. Wolfe (1971)
Ceramide trihexosidosis (fabry's disease) without skin lesions.The New England journal of medicine, 284 5
J. Fratantoni, E. Neufeld, B. Uhlendorf, C. Jacobson (1969)
Intrauterine diagnosis of the hurler and hunter syndromes.The New England journal of medicine, 280 13
(1971)
Indications for amnio-193
(1972)
Deter - mination of enzyme activities in studies on gene dose effects in cultivated cells
A. Milunsky, J. Littlefield, J. Kanfer, E. Kolodny, V. Shih, L. Atkins (1970)
Prenatal genetic diagnosis. I.The New England journal of medicine, 283 25
L. Hsu, K. Hirschhorn (1974)
Prenatal diagnosis of genetic disease.Life sciences, 14 12
(1972)
Angiokeratoma Corporis Diffusum (Fabry's Sygdom). Copenhagen
G. Romeo, B. Migeon (1970)
Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's DiseaseScience, 170
R. Brady, A. Gal, R. Bradley, E. Mårtensson, A. Warshaw, L. Laster (1967)
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.The New England journal of medicine, 276 21
(1972)
Fabry's disease Glycospingolipid lipidosis. The Metabolic Basis of lnherited Disease
H. Galjaard, M. Mekes, J. Jong, M. Niermeijer (1973)
A method for rapid prenatal diagnosis of glycogenosis II (Pompe's disease).Clinica chimica acta; international journal of clinical chemistry, 49 3
(1953)
The quantitative histochemistry of the brain, histological sampling
J. Kint (1970)
Fabry's Disease: Alpha-Galactosidase DeficiencyScience, 167
S. Bonting, I. Rosenthal (1960)
Effects of the Method of Tissue Preparation on the Assay of Tissue Enzyme ActivitiesNature, 185
(1973)
Techniques for rapid prenatal diagnosis of some inborn errors of metabolism
(1972)
Niermeijer (1972a). Possibilit6s et limitations dans le diagnostic
H. Nadler (1972)
Tissue culture and antenatal detection of molecular diseases.Biochimie, 54 5
M. Ho, S. Beutler, L. Tennant, J. O'brien (1972)
Fabry's disease: evidence for a physically altered -galactosidase.American journal of human genetics, 24 3
C. Olsen, H. Nielsen, E. Østergaard (1970)
Complications to Therapeutic AbortionsInternational Journal of Gynecology & Obstetrics, 8
J. Schulman, W. Fujimoto, K. Bradley, J. Seegmiller (1970)
Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report.The Journal of pediatrics, 77 3
(1972)
A flexible system o f cnzyrnntic analyses
(1972)
Possibilities of quantitative histochemical analyses in prenatal detection and genetic classification of hereditary metabolic disorders
Nadler Hl (1971)
Indications for amniocentesis in the early prenatal detection of genetic disorders.Birth defects original article series, 7
R. Brady, B. Uhlendorf, C. Jacobson (1971)
Fabry's Disease: Antenatal DetectionScience, 172
G. Romeo, B. Childs, B. Migeon (1972)
Genetic heterogeneity of α‐galactosidase in fabry's diseaseFEBS Letters, 27
F. Matschinsky, J. Ellerman, Landgraf, J. Krzanowski, J. Kotler-Brajtburg, R. Fertel (1971)
Quantitative histochemistry of glucose metabolism in the islets of Langerhans.Current problems in clinical biochemistry, 3
In a pregnancy at risk for Fabry's disease, a prenatal diagnosis could be established 11 days after amniocentesis in the 15th week of pregnancy. This was possible by microchemical analysis of the αgalactosidase activity in isolated groups of 100–200 freeze-dried, cultured amniotic fluid cells. The results of this microassay were confirmed by (micro)biochemical analysis in cell homogenates from replicate cultures performed in two independent laboratories. Some problems in prenatal diagnosis of heterozygotes are discussed, as well as the possibilities of microchemical techniques for the more rapid prenatal diagnosis of other lysosomal storage diseases.
Clinical Genetics – Wiley
Published: Apr 1, 1974
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