Keyphrases
Niemann-Pick Disease Type B
90%
Acid Sphingomyelinase Deficiency
79%
Niemann-Pick Disease
70%
Arylsulfatase B
49%
Molecular Genetic Testing
49%
Feline
37%
Genetic Testing
36%
Sphingomyelin
34%
Mucopolysaccharidosis VI
32%
Natural History
31%
Testing Laboratory
31%
Acid Sphingomyelinase
28%
Quality Assurance
21%
Genotype
20%
Lysosomal Storage Disease
20%
Disease Burden
18%
BRCA1, BRCA2
16%
Cystic Fibrosis
16%
United States
16%
Splenomegaly
15%
Enzyme Replacement Therapy
14%
Family History
14%
Isozymes
13%
Spleen Volume
12%
Neurological Examination
12%
Recombinant Human Acid Sphingomyelinase
12%
Hepatosplenomegaly
11%
BRCA2 mutation
11%
Pulmonary Function
11%
Heterozygote
11%
Laboratory Setting
11%
SMPD1
11%
Genetic Counselors
11%
Disease Pattern
10%
Niemann-Pick
10%
Ashkenazi Jews
10%
Genetic Counseling
10%
Pediatric Patients
10%
Healthcare Professionals
10%
Disease Manifestations
10%
Clinical Trials
9%
Homozygote
9%
MPS VI
9%
Leukocytes
9%
Genotype-phenotype Correlation
9%
B Deficiency
9%
Interstitial Lung Disease
9%
Ethical Issues
9%
Prenatal Diagnosis
9%
New York State
9%
Biochemistry, Genetics and Molecular Biology
Acid Sphingomyelinase
69%
Sphingomyelin Phosphodiesterase
69%
Niemann-Pick Disease
61%
Genetic Screening
52%
Molecular Genetics
40%
Arylsulfatase B
37%
Mucopolysaccharidosis
33%
Genetics
33%
Enzyme
26%
Sphingomyelin
18%
Attitude
14%
BRCA1
13%
Lipid
13%
Genetic Test
12%
Arylsulfatase A
12%
Allele
12%
Metabolic Pathway
11%
Genotyping
9%
Homozygote
9%
BRCA2
9%
Lipid Profile
8%
Heterozygote
8%
Genetic Carrier
8%
Lipid Storage Disorder
8%
Leukocyte
8%
Clinical Trial
7%
Genetic Disorder
7%
Animal Model
7%
Prospective Study
7%
Tumor Suppressor Gene
7%
Phenylketonuria
7%
Arginine
7%
Dried Blood Spot
7%
Copurification
7%
Lung Function
7%
Prevalence
7%
Lipid Storage
7%
Butyrate
7%
Adrenoleukodystrophy
7%
Genotype Phenotype Correlation
7%
Allelism
7%
Thiol
7%
Tissue Culture
7%
Blood Plasma
6%
Isozyme
6%
Dermatan Sulfate
5%
Molecular Weight
5%
Medicine and Dentistry
Niemann-Pick Disease
100%
Acid Sphingomyelinase
77%
Disease
63%
Genetic Screening
44%
Lysosomal Storage Disease
17%
Family History
15%
Splenomegaly
13%
BRCA1
13%
Sphingomyelin
12%
Enzyme Replacement Therapy
12%
Diagnosis
12%
Clinical Trial
11%
Pediatrics
11%
Lung Function
11%
Breast Cancer
10%
Neurologic Examination
10%
Genetic Counseling
10%
Hepatosplenomegaly
10%
Cross Sectional Study
10%
Combination Therapy
9%
Prenatal Diagnosis
9%
Bone Age
9%
Thorax Radiography
9%
Patient Monitoring
9%
BRCA2
8%
Attitude
8%
Sphingolipidoses
8%
Computer Assisted Tomography
8%
Cancer Susceptibility
8%
Hepatomegaly
8%
Phenylketonuria
7%
Prospective Study
7%
Amniocentesis
7%
Chorionic Villus Sampling
7%
Health Care Provider
7%
Cystic Fibrosis
7%
Histopathology
7%
Prostate Cancer
7%
Complementary and Alternative Medicine
7%
Tumor Suppressor Gene
7%
Pulmonary Function Testing
7%
Gastroenterology
7%
Awareness
7%
Clinical Management
7%
Patient Referral
7%
Maroteaux-Lamy Syndrome
7%
Chondrocyte
7%
N Acetylgalactosamine 4 Sulfatase
7%
Bone Dysplasia
7%
Colorectal Carcinoma
7%