scholarly journals Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy.

1993 ◽  
Vol 30 (8) ◽  
pp. 670-674 ◽  
Author(s):  
E Hildes ◽  
H K Jacobs ◽  
A Cameron ◽  
S S Seshia ◽  
F Booth ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Genetic Counselling ◽  
Neonatal Screening

Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling

2008 ◽  
Vol 43 (5) ◽  
pp. 247-249 ◽  
Author(s):  
Maria Antonietta Melis ◽  
Milena Cau ◽  
Rita Congiu ◽  
Rosalha Puddu ◽  
Francesco Muntoni ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Genetic Counselling ◽  
Germinal Mosaicism

SYSTEMATIC NEONATAL SCREENING FOR DUCHENNE MUSCULAR DYSTROPHY

The Lancet ◽  
1978 ◽  
Vol 312 (8099) ◽  
pp. 1100 ◽  
Author(s):  
CH. Dellamonica ◽  
J.M. Robert ◽  
J. Cotte ◽  
C. Collombel ◽  
C. Dorche
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Neonatal Screening

DUCHENNE MUSCULAR DYSTROPHY: NEONATAL SCREENING AND PRENATAL DIAGNOSIS

The Lancet ◽  
1989 ◽  
Vol 333 (8639) ◽  
pp. 669 ◽  
Author(s):  
H Plauchu ◽  
C Dorche ◽  
M.P Cordier ◽  
P Guibaud ◽  
J.M Robert
Keyword(s):  
Prenatal Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Neonatal Screening

Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paper.

1983 ◽  
Vol 29 (1) ◽  
pp. 161-163 ◽  
Author(s):  
C Dellamonica ◽  
C Collombel ◽  
J Cotte ◽  
P Addis
Keyword(s):  
Creatine Kinase ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Blood Sample ◽  
Filter Paper ◽  
Whole Blood ◽  
Neonatal Screening ◽  
Screening Program ◽  
Improved Method ◽  
Increased Activity

Abstract Neonatal screening for Duchenne-type muscular dystrophy is greatly simplified by use of a new bioluminescence procedure for creatine kinase. The blood of newborn myopathic children consistently showed increased activity. The improved method permits the analysis from a dried sample of whole blood spotted on filter paper; it shows high correlation with existing procedures and is highly specific and precise. The use of the improved method in a screening program involving 158 000 newborns is reviewed. We find a prevalence of 1/5929 living eighth-day boys.

The effects of genetic counselling in Duchenne muscular dystrophy

2008 ◽  
Vol 3 (2) ◽  
pp. 147-150 ◽  
Author(s):  
A. E. H. Emery ◽  
M. S. Watt ◽  
E. R. Clack
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Genetic Counselling
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