Keyphrases
Gaucher Disease
100%
Neurofibromatosis Type 1 (NF-1)
81%
Neurofibromatosis Type I
72%
Enzyme Replacement Therapy
65%
Tumor
36%
Gaucher
35%
Optic Pathway
32%
Fabry Disease
30%
Imiglucerase
29%
Optic Pathway Glioma
27%
Achondroplasia
22%
Newborn Screening
21%
Pompe Disease
21%
Eliglustat
18%
Natural History
17%
Vosoritide
16%
Tumors in children
16%
Fabry Registry
15%
Lysosomal Storage Disease
15%
Agalsidase-β
15%
Velaglucerase Alfa
15%
Plexiform Neurofibroma
15%
Genetic Disease
14%
Platelet Count
14%
Alglucerase
13%
Pediatric
13%
Enzyme Treatment
13%
Illinois
12%
Neuroimaging
12%
Late-onset
12%
Bone Crisis
12%
Ashkenazi Jews
12%
Alglucosidase Alfa
12%
Nave
11%
Neural Tube Defects
11%
Randomized Double-blind
11%
Schimke Immuno-osseous Dysplasia
11%
Agalsidase
11%
Carrier Screening
11%
Bone Pain
10%
Adverse Events
9%
Intellectual Disability
9%
Adult Patients
8%
Glucocerebrosidase
8%
United States
8%
Growth Velocity
8%
Pediatric Patients
8%
Clinical Trials
8%
Hemoglobin
8%
Autosomal Recessive
8%
Medicine and Dentistry
Neurofibromatosis Type I
69%
Enzyme Replacement Therapy
58%
Gaucher Disease Type 1
56%
Gaucher's Disease
43%
Neoplasm
33%
Diseases
27%
Ganglioglioma
24%
Imiglucerase
23%
Glycogen Storage Disease Type II
21%
Achondroplasia
18%
Fabry Disease
16%
Pediatrics
16%
Platelet
16%
Lysosomal Storage Disease
15%
Eliglustat
15%
Plexiform Neurofibroma
15%
Bone Pain
14%
Alglucosidase Alfa
12%
Dysplasia
12%
Vosoritide
12%
Immunoglobulin
12%
Newborn Screening
11%
Neurofibromatosis
11%
Adverse Event
11%
Alglucerase
10%
Genetic Disorder
10%
Storage Disease
10%
Quality of Life
8%
Placebo
8%
Infusion
8%
Visual Acuity
8%
Nephropathy
8%
Short Stature
8%
Enzyme Therapy
7%
Clinical Trial
7%
Propionic Acidemia
7%
Agalsidase Beta
7%
Optic Nerve Glioma
7%
Growth Hormone
7%
Meningomyelocele
7%
Autosomal Recessive Inheritance
7%
Spinal Cord Compression
7%
Lifespan
7%
Persistent Truncus Arteriosus
7%
Glucosylceramidase
7%
Velaglucerase Alfa
7%
Neural Tube Defect
7%
Thrombocytopenia
7%
Magnetic Resonance Imaging
6%
Spinal Dysraphism
6%