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American Journal of Human Genetics|January 1, 1985
Hereditary heat-labile hexosaminidase B: a variant whose homozygotes synthesize a functional HEX AR Navon, R Kopel, J Nutman, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|March 29, 1996
Intracellular degradation of sulforhodamine-GM1: use for a fluorescence-based characterization of GM2-gangliosidosis variants in fibroblasts and white blood cellsV Agmon, R Khosravi, S Marchesini, et al.Journal of Inherited Metabolic Disease|July 12, 2008
Neurocognitive testing in late-onset Tay-Sachs disease: a pilot studyD Elstein, G M Doniger, E Simon, et al.Human Mutation|January 1, 1997
Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript levelL Drucker, A Golan, D J Boles, et al.Prenatal Diagnosis|July 1, 1995
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniquesR Navon, V Timmerman, A Löfgren, et al.British Journal of Obstetrics and Gynaecology|November 1, 1977
A survey of amniocentesis in 925 patients at high risk of fetal genetic disorderB Goldman, S Mashiah, D M Serr, et al.Chemistry and Physics of Lipids|August 8, 1994
Sulforhodamine GM1-ganglioside: synthesis and physicochemical propertiesS Marchesini, L Demasi, P Cestone, et al.Archives of Pathology & Laboratory Medicine|March 1, 1980
Ultrastructure of the conjunctiva, skin, and gingiva: a case of Sandhoff's disease in a Jewish patientG Messer, S Harel, B Erlich, et al.Human Mutation|January 1, 1997
Tay-Sachs disease and HEXA mutations among Moroccan JewsM Kaufman, J Grinshpun-Cohen, M Karpati, et al.Revue Neurologique|March 1, 1997
[Juvenile GM2 gangliosidosis with progressive spinal muscular atrophy onset]P Rondot, R Navon, B Eymard, et al.Pageof 5