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Journal of Applied Physiology (Bethesda, Md. : 1985)|October 1, 1995
Computerized tomography and pulmonary diffusing capacity in highly trained athletes after performing a triathlonC Caillaud, O Serre-Cousiné, F Anselme, et al.
Human Genetics|December 1, 1996
Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry diseaseD Germain, M Biasotto, M Tosi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 31, 1984
Sodium taurocholate effect on beta-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytesJ Magalhães, M C Sá Miranda, R Pinto, et al.
Biochemical and Biophysical Research Communications|March 30, 1984
High frequency of beta-hexosaminidase deficiency in lymphoblastoid cell linesJ C Dreyfus, J P Belon, S Gautron, et al.
The Journal of Biological Chemistry|May 5, 1990
A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs diseaseS Akli, J Chelly, C Mezard, et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|January 1, 1983
Reactivating factors of human alpha-mannosidase mutantM C Miranda, S Gautron, H Puissant, et al.
Prenatal Diagnosis|September 1, 1984
Prenatal diagnosis of atypical Tay-Sachs disease by chorionic villi samplingA M Besançon, J P Belon, L Castelnau, et al.
Enzyme|January 1, 1984
Age dependency of serum acid phosphatase in controls and Gaucher patientsJ Magalhães, R Pinto, M Lemos, et al.
American Journal of Medical Genetics|December 10, 1999
Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disordersA Mégarbané, G Khalil, N Waked, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|April 9, 2013
[A retrospective study to evaluate a protocol aimed at reducing the number of unnecessary voiding cystourethrographies performed after a first episode of febrile urinary tract infection]C Caillaud, M Abély, A Pons, et al.
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