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Science 9 April 1971:
Vol. 172. no. 3979, pp. 174 - 175
DOI: 10.1126/science.172.3979.174
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Articles

Fabry's Disease: Antenatal Detection

Roscoe O. Brady 1, B. William Uhlendorf 2, and Cecil B. Jacobson 3

1 Laboratory of Neurochemistry, National Institute of Neurological Diseases and Blindness, Bethesda, Maryland 20014
2 Division of Biologics Standards, National Institutes of Health, Bethesda, Maryland 20014
3 Department of Obstetrics and Gynecology, George Washington University School of Medicine, Washington, D.C. 20005

A procedure is described for the intrauterine detection, at the 17th week of gestation, of a male fetus afflicted with Fabry's disease. The validity of this determination was substantiated by multiple enzyme and lipid analyses of tissue specimens obtained from the afflicted fetus. Fabry's disease may now be included with other X-linked metabolic deficiency diseases that are amenable to precise genetic counseling, through carrier identification, and the monitoring of ensuing pregnancies.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy.
R. J. Desnick, R. Brady, J. Barranger, A. J. Collins, D. P. Germain, M. Goldman, G. Grabowski, S. Packman, and W. R. Wilcox (2003)
Ann Intern Med 138, 338-346
   Abstract »    Full Text »    PDF »
Neurogene Therapy for the 21st Century.
R. O. Brady (2000)
Arch Neurol 57, 54
   Full Text »    PDF »
Involvement of Peripheral Nerve and Muscle in Fabry's Disease: Histologic, Ultrastructural, and Morphometric Studies.
A. A. F. Sima and D. M. Robertson (1978)
Arch Neurol 35, 291-301
   Abstract »    PDF »
Electron Microscopy of Urinary Sediment in Fabry's Disease.
I. Stachura (1977)
JAMA 238, 580-581
   Abstract »    PDF »
The Lipid Storage Diseases: New Concepts and Control.
R. O. BRADY (1975)
Ann Intern Med 82, 257-261
   Abstract »    PDF »
Eyelids, Lacrimal Apparatus, and Conjunctiva.
M. Boniuk (1973)
Arch Ophthalmol 90, 239-250
   PDF »
Reversal of an Inborn Sphingolipidosis (Fabry's Disease) by Kidney Transplantation.
M. PHILIPPART, S. S. FRANKLIN, and A. GORDON (1972)
Ann Intern Med 77, 195-200
   Abstract »    PDF »


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