Genotype–Phenotype Correlations in Neuronal Ceroid Lipofuscinosis Due to Palmitoyl-Protein Thioesterase Deficiency
- 30 April 1999
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 66 (4) , 234-239
- https://doi.org/10.1006/mgme.1999.2803
Abstract
No abstract availableKeywords
This publication has 16 references indexed in Scilit:
- Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.Journal of Clinical Investigation, 1998
- Palmitoyl-Protein Thioesterase and the Molecular Pathogenesis of Infantile Neuronal Ceroid LipofuscinosisNeuropediatrics, 1997
- Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase.Proceedings of the National Academy of Sciences, 1996
- Lysosomal Targeting of Palmitoyl-protein ThioesteraseJournal of Biological Chemistry, 1996
- Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosisNature, 1995
- Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observationsAmerican Journal of Medical Genetics, 1992
- Neuronal ceroid-lipofuscinoses in childhoodBrain & Development, 1988
- Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalitiesAmerican Journal of Medical Genetics, 1988
- Infantile Type of So‐called Neuronal Ceroid‐lipofuscinosisDevelopmental Medicine and Child Neurology, 1974
- Infantile type of so-called neuronal ceroid-lipofuscinosisActa Neuropathologica, 1973