Cost-effectiveness of neonatal screening for Duchenne muscular dystrophy—How does this compare to existing neonatal screening for metabolic disorders?

1993 ◽  
Vol 37 (4) ◽  
pp. 541-547 ◽  
Author(s):  
T. Rosenberg ◽  
H.K. Jacobs ◽  
R. Thompson ◽  
J.M. Horne
Keyword(s):  
Cost Effectiveness ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Neonatal Screening ◽  
Metabolic Disorders

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

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

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

Laboratory and radiological screening tests

2006 ◽  
pp. 192-200
Author(s):  
David M. B. Hall ◽  
David Elliman
Keyword(s):  
Cystic Fibrosis ◽  
Liver Disease ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Coeliac Disease ◽  
Lead Poisoning ◽  
Metabolic Disorders ◽  
Urine Analysis ◽  
Screening Tests

Chapter 9 cover phenylketonuria and hypothyroidism, other metabolic disorders, cystic fibrosis, Duchenne muscular dystrophy, urine analysis and urine infections, reflux, haemoglobinopathies, liver disease in infancy, hypercholesterolaemia, lead poisoning, neuroblastoma, and coeliac disease.

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.

GENE STUDIES IN NEWBORN MALES WITH DUCHENNE MUSCULAR DYSTROPHY DETECTED BY NEONATAL SCREENING

The Lancet ◽  
1988 ◽  
Vol 332 (8608) ◽  
pp. 425-427 ◽  
Author(s):  
C.R. Greenberg ◽  
H.K. Jacobs ◽  
E. Nylen ◽  
M. Rohringer ◽  
N. Averill ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Neonatal Screening
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