Lesch-Nyhan syndrome in a girl
J Inherit Metab Dis
.
1992;15(5):790-1.
doi: 10.1007/BF01800022.
Authors
P van Bogaert
1
,
I Ceballos
,
I Desguerre
,
L Telvi
,
P Kamoun
,
G Ponsot
Affiliation
1
Department of Paediatric Neurology, Hopital Saint-Vincent-De-Paul, Paris, France.
PMID:
1434518
DOI:
10.1007/BF01800022
No abstract available
Publication types
Case Reports
MeSH terms
Blotting, Southern
Child
DNA / analysis
Female
Heterozygote
Humans
Lesch-Nyhan Syndrome / diagnosis
Lesch-Nyhan Syndrome / genetics*
Substances
DNA