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Keyphrases
Monozygotic Twins
100%
Galactose
100%
4-Epimerase
100%
UDP-galactopyranose mutase
100%
Novel Variant
100%
Hemolysate
25%
Epimerase
25%
Cytomegalovirus Infection
12%
Newborn Screening
12%
Developmental Stages
12%
Saccharomyces Cerevisiae
12%
Negative Consequences
12%
N-acetylgalactosamine
12%
Symptom Severity
12%
Autosomal Recessive
12%
Vmax
12%
Follow-up Testing
12%
Lymphoblast
12%
Expression Study
12%
Missense Substitution
12%
Background Strain
12%
Normal Activity
12%
Williams Syndrome
12%
Leloir Pathway
12%
UDP-galactose
12%
Galactosemia
12%
Independent Testing
12%
UDP-Gal
12%
Galactose Metabolism
12%
Uridylyltransferase
12%
UDP-GalNAc
12%
Total Galactose
12%
Molecular Testing
12%
Concurrent Diagnosis
12%
Phosphate Levels
12%
Tissue Stages
12%
Galactose-1-phosphate
12%
Biochemistry, Genetics and Molecular Biology
Monozygotic Twins
100%
Uridine Diphosphate Galactose
100%
Galactose
100%
Uridine Diphosphate
27%
Enzyme
18%
Deficiency
18%
Metabolic Pathway
9%
N-Acetylgalactosamine
9%
Autosomal Recessive Disorder
9%
Leloir Pathway
9%
Galactose 1-Phosphate
9%
Missense
9%
Newborn Screening
9%
Cytomegalovirus
9%
Saccharomyces cerevisiae
9%
Developmental Stage
9%
Maximum Reaction Velocity
9%
Lymphoblast
9%
Williams Syndrome
9%