Concepedia
Advances in experimental medicine and biology · 2006 · 19 citations · 12 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsEnzyme DeficienciesGenetic DisordersMutation AnalysisRare Disease GeneticsVariant InterpretationCongenital Enzyme DefectsMutation Spectrum AnalysisPoint Mutation Analysis
12
Aspartoacylase deficiency and N‐acetylaspartic aciduria in patients with canavan disease
Reuben Matalon, K. Michals, Donald G. Sebesta et al. · American Journal of Medical Genetics · 1988 · 406 citations
Life Sciences, Biochemistry, Molecular Genetics +12
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease
Rajinder Kaul, Guang Ping Gao, Kuppareddi Balamurugan et al. · Nature Genetics · 1993 · 220 citations
Life Sciences, Genetics, Molecular Genetics +7
Immunohistochemical localization of aspartoacylase in the rat central nervous system
Chikkathur N. Madhavarao, John R. Moffett, Roger A. Moore et al. · The Journal of Comparative Neurology · 2004 · 147 citations · Full text
Life Sciences, Neurobiology, Neuroscience +17
Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.
Rajinder Kaul, Guang Ping Gao, Reuben Matalon et al. · PubMed · 1996 · 66 citations · Full text
Life Sciences, Genetics, Molecular Genetics +10
Identification and characterization of novel mutations of the aspartoacylase gene in non‐Jewish patients with Canavan disease
Bai Jin Zeng, Z. H. Wang, Lucilene Arilho Ribeiro et al. · Journal of Inherited Metabolic Disease · 2002 · 65 citations