Keyphrases
Achondroplasia
22%
Adult Patients
8%
Adverse Events
9%
Agalsidase
11%
Agalsidase-β
15%
Alglucerase
13%
Alglucosidase Alfa
12%
Ashkenazi Jews
12%
Autosomal Recessive
8%
Bone Crisis
12%
Bone Pain
10%
Carrier Screening
11%
Clinical Trials
8%
Eliglustat
18%
Enzyme Replacement Therapy
65%
Enzyme Treatment
13%
Fabry Disease
33%
Fabry Registry
15%
Gaucher
35%
Gaucher Disease
100%
Genetic Disease
14%
Glucocerebrosidase
8%
Growth Velocity
8%
Hemoglobin
8%
Illinois
13%
Imiglucerase
29%
Intellectual Disability
9%
Late-onset
12%
Lysosomal Storage Disease
15%
Natural History
17%
Nave
11%
Neural Tube Defects
11%
Neurofibromatosis Type 1 (NF-1)
81%
Neurofibromatosis Type I
72%
Neuroimaging
12%
Newborn Screening
25%
Optic Pathway
32%
Optic Pathway Glioma
27%
Pediatric
13%
Pediatric Patients
8%
Platelet Count
14%
Plexiform Neurofibroma
15%
Pompe Disease
21%
Randomized Double-blind
11%
Schimke Immuno-osseous Dysplasia
11%
Tumor
36%
Tumors in children
16%
United States
8%
Velaglucerase Alfa
15%
Vosoritide
16%
Medicine and Dentistry
Achondroplasia
18%
Adverse Event
11%
Agalsidase Beta
7%
Alglucerase
10%
Alglucosidase Alfa
12%
Autosomal Recessive Inheritance
7%
Bone Pain
14%
Clinical Trial
7%
Diseases
27%
Dysplasia
12%
Eliglustat
15%
Enzyme Replacement Therapy
58%
Enzyme Therapy
7%
Fabry Disease
16%
Ganglioglioma
24%
Gaucher Disease Type 1
56%
Gaucher's Disease
43%
Genetic Disorder
10%
Glucosylceramidase
7%
Glycogen Storage Disease Type II
21%
Growth Hormone
7%
Imiglucerase
23%
Immunoglobulin
12%
Infusion
8%
Lifespan
7%
Lysosomal Storage Disease
15%
Magnetic Resonance Imaging
6%
Meningomyelocele
7%
Neoplasm
33%
Nephropathy
8%
Neural Tube Defect
7%
Neurofibromatosis
11%
Neurofibromatosis Type I
69%
Newborn Screening
11%
Optic Nerve Glioma
7%
Pediatrics
16%
Persistent Truncus Arteriosus
7%
Placebo
8%
Platelet
16%
Plexiform Neurofibroma
15%
Propionic Acidemia
7%
Quality of Life
8%
Short Stature
8%
Spinal Cord Compression
7%
Spinal Dysraphism
6%
Storage Disease
10%
Thrombocytopenia
7%
Velaglucerase Alfa
7%
Visual Acuity
8%
Vosoritide
12%