Keyphrases
Fabry Disease
100%
β-Galactosidase (β-Gal)
78%
Erythropoietic Protoporphyria
35%
Gaucher Disease
32%
Acute Intermittent Porphyria
31%
Enzyme Replacement Therapy
29%
Ashkenazi Jews
28%
Lysosomal Storage Disease
25%
Heterozygote
21%
Uroporphyrinogen III Synthase
20%
Complementary DNA (cDNA)
20%
Glycosphingolipids
19%
Hydroxymethylbilane Synthase
19%
Porphyria
19%
Niemann-Pick Disease
18%
Missense mutation
17%
Fabry
16%
5-aminolevulinate
15%
Novel mutation
15%
Prenatal Diagnosis
15%
X-linked
14%
Acid Sphingomyelinase
14%
Late-onset
14%
Glucosidase
14%
Autosomal Recessive
14%
GL(3)
13%
Genotype
13%
Feline
12%
Isozymes
12%
Enzyme Treatment
12%
Inborn Errors
12%
Jewish Population
11%
Dehydratase
11%
Acute Hepatic Porphyria
11%
Polymorphism
11%
Globotriaosylceramide
10%
Arylsulfatase B
10%
Ceramide
10%
Liver
10%
Amino Acids
9%
Photosystem II
9%
Gaucher
9%
Porphobilinogen
9%
X-linked Protoporphyria
9%
Genotype-phenotype Correlation
9%
Homozygote
9%
Mouse Model
9%
Niemann-Pick Disease Type B
9%
Molecular Lesions
8%
Genetic Heterogeneity
8%
Biochemistry, Genetics and Molecular Biology
Enzyme
85%
Fabry Disease
76%
Porphyria
58%
Galactosidase
54%
Galactose
35%
Allele
35%
Porphobilinogen Deaminase
21%
Exon
21%
Missense Mutation
20%
Blood Plasma
19%
Gaucher's Disease
19%
Uroporphyrinogen III Synthase
19%
Glycosphingolipid
18%
Genomics
17%
Niemann-Pick Disease
17%
Acid Sphingomyelinase
16%
Sphingomyelin Phosphodiesterase
16%
Genetics
14%
Fibroblast
14%
Porphobilinogen Synthase
14%
Genotyping
13%
Autosomal Recessive Inheritance
12%
Anabolism
11%
Glucosidase
11%
Haplotype
11%
Galactosidase
11%
Lysosomal Storage Disease
11%
Synthase
11%
Enzyme Activity
10%
Dysplasia
10%
Amino Acids
10%
Codon
10%
Isozyme
9%
Mucopolysaccharidosis
9%
Homozygote
9%
Genotype Phenotype Correlation
9%
Nucleotide Sequence
9%
Genetic Heterogeneity
8%
Promoter Region
8%
Ceramide
8%
Wild Type
8%
Molecular Cloning
8%
Heterozygote
8%
Genetic Carrier
8%
Hemizygote
8%
Genetic Disorder
8%
Molecular Lesion
7%
Prevalence
7%
Hexosaminidase
7%
Arylsulfatase B
7%
Medicine and Dentistry
Fabry Disease
38%
Disease
30%
Enzyme Replacement Therapy
20%
Niemann-Pick Disease
13%
Porphyria
12%
Gaucher Disease Type 1
12%
Acute Intermittent Porphyria
11%
Lysosomal Storage Disease
11%
Glycosphingolipid
10%
Hepatic Porphyria
10%
Galactosidase
9%
Erythropoietic Protoporphyria
9%
Galactose
9%
Prenatal Diagnosis
7%
Erythropoietic Porphyria
7%
Heme
7%
Nephropathy
7%
Porphyrin
6%
Clinical Trial
5%
