Biochemical characterization of the GM2 gangliosidosis B1 variant

Brazilian Journal of Medical and Biological Research

Volumn 37, Issue 6, 2004, Pages 777-783

  Tutor, Jose Carlos ^a  

^a Instituto de Salud Carlos III   (Spain)

Author keywords

Activation energy; Biochemical characterization; GM2 gangliosidosis B1 variant; hexosaminidase isoenzymes

Indexed keywords

ARGININE; BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B; CHLOROPHENOL; DIMER; GANGLIOSIDE GM2; GLUCOSAMINE DERIVATIVE; HISTIDINE; ISOENZYME; PHTHALEIN; SULFUR DERIVATIVE;

ALPHA CHAIN; BIOCHEMISTRY; CHILDHOOD DISEASE; DEATH; DEGENERATIVE DISEASE; ENERGY; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYME INACTIVATION; ENZYME SUBSTRATE; ETHNIC DIFFERENCE; GENE MUTATION; GENETIC CODE; GEOGRAPHIC DISTRIBUTION; HEAT TREATMENT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INCIDENCE; LIPID HYDROLYSIS; LYSOSOME STORAGE DISEASE; PORTUGAL; REVIEW; SULFATION; SYMPTOMATOLOGY; TAY SACHS DISEASE; VALIDATION PROCESS;

EID: 3042686662     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2004000600001     Document Type: Review

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