First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay andCLN1 mutation analysis

1999 ◽  
Vol 19 (6) ◽  
pp. 559-562 ◽  
Author(s):  
B. B. A. de Vries ◽  
W. J. Kleijer ◽  
J. L. M. Keulemans ◽  
Y. V. Voznyi ◽  
P. F. Franken ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Enzyme Assay ◽  
Neuronal Ceroid Lipofuscinosis ◽  
First Trimester ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis

scholarly journals Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5)

1999 ◽  
Vol 19 (7) ◽  
pp. 685-688 ◽  
Author(s):  
Juhani Rapola ◽  
Jaana Lähdetie ◽  
Juha Isosomppi ◽  
Päivi Helminen ◽  
Maila Penttinen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Neuronal Ceroid Lipofuscinosis ◽  
Ceroid Lipofuscinosis
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