Prenatal and postnatal studies of a late infantile GM2 gangliosidosis in a family of syrian origin: A possible B1 variant

Keyphrases

• Methyl 100%
• Syrian 100%
• GM2 Gangliosidosis 100%
• Late Infantile 100%
• Hexosaminidase A 66%
• 4-MUG 66%
• Leukocytes 33%
• Heterozygote 33%
• Homozygote 33%
• Consanguinity 33%
• Non-carriers 33%
• Screening Program 33%
• Druze 33%
• Rare mutation 33%
• Fluorogenic Substrate 33%
• D-glucopyranosides 33%
• Acetamido 33%
• Heat Inactivation 33%
• Tay-Sachs Disease 33%
• Catalytic Characteristics 33%
• Carrier Range 33%
• At-risk Couple 33%

Biochemistry, Genetics and Molecular Biology

• Hexosaminidase 100%
• Sulfate 100%
• GM2 Gangliosidoses 100%
• Enzyme 50%
• Genetics 50%
• Genetic Carrier 50%
• Heterozygote 50%
• Leukocyte 50%
• Consanguinity 50%
• Homozygote 50%
• Tay-Sachs Disease 50%
• Screening 50%