A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL

By van Diggelen O.P.   Keulemans J.L.M.   Winchester B.   Hofman I.L.   vanhanen S.L.   Santavuori P.   Voznyi Y.V.  

Molecular Genetics and Metabolism, Vol. 66, Iss. 4, 1999-04 ,pp. : 240-244

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The Expression of Palmitoyl-Protein Thioesterase Is Developmentally Regulated in Neural Tissues but Not in Nonneural Tissues

By Suopanki J.   Tyynelä J.   Baumann M.   Haltia M.  

Molecular Genetics and Metabolism, Vol. 66, Iss. 4, 1999-04 ,pp. : 290-293

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Expression of Palmitoyl Protein Thioesterase in Neurons

By Heinonen O.   Kyttälä A.   Lehmus E.   Paunio T.   Peltonen L.   Jalanko A.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 2, 2000-02 ,pp. : 123-129

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Late Infantile Neuronal Ceroid Lipofuscinosis Is Due to Splicing Mutations in the CLN2 Gene

By Hartikainen J.M.   Ju W.   Wisniewski K.E.   Moroziewicz D.N.   Kaczmarski A.L.   McLendon L.   Zhong D.   Suarez C.T.   Brown W.T.   Zhong N.  

Molecular Genetics and Metabolism, Vol. 67, Iss. 2, 1999-06 ,pp. : 162-168

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Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis in the Netherlands

By Taschner P.E.M.   Franken P.F.   van Berkel L.   Breuning M.H.  

Molecular Genetics and Metabolism, Vol. 66, Iss. 4, 1999-04 ,pp. : 339-343

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