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Molecular and clinical heterogeneity of adult G(M2) gangliosidosis
R. Navon
*
*
Corresponding author for this work
Meir Hospital Sapir Medical Center
Research output
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Contribution to journal
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Article
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peer-review
23
Scopus citations
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Keyphrases
Ashkenazi
100%
Compound Heterozygous mutation
100%
Clinical Heterogeneity
100%
Molecular Heterogeneity
100%
Gangliosidosis
100%
Disease Severity
50%
Genotype
50%
Single Base
50%
Older Women
50%
Neurological Symptoms
50%
Autosomal Recessive
50%
Ashkenazi Jews
50%
Neurological Manifestations
50%
Genetic Counselors
50%
Base Change
50%
Jewish Patients
50%
Tay-Sachs
50%
β-hexosaminidase
50%
Psychiatric Manifestations
50%
Hexosaminidase A
50%
Biochemistry, Genetics and Molecular Biology
Hexosaminidase
100%
Gangliosidosis
100%
Enzyme
50%
Genetics
50%
Allele
50%
Autosomal Recessive Disorder
50%
Compound Heterozygosity
50%
Tay-Sachs Disease
50%