Keyphrases
Gaucher Disease
100%
Erythropoietic Protoporphyria
65%
Acute Hepatic Porphyria
50%
Porphyria
45%
Acute Intermittent Porphyria
37%
Eliglustat
34%
X-linked Protoporphyria
32%
Lysosomal Acid Lipase
30%
Givosiran
30%
Parkinson's Disease
29%
Gaucher
26%
5-Aminolevulinate Synthase
20%
Porphobilinogen
19%
Sebelipase Alfa
18%
5-Aminolevulinic Acid (5-ALA)
17%
North America
15%
Enzyme Replacement Therapy
14%
Open-label Extension
14%
Ferrochelatase
14%
GBA mutations
14%
Hemin
13%
Ashkenazi Jews
12%
N370S
12%
Sun Exposure
12%
Placebo
12%
Recurrent Attacks
12%
Liver Volume
11%
Heme Biosynthesis
11%
Pseudoporphyria
11%
Acute Attack
10%
COVID-19
10%
Heterozygote
10%
Carrier Screening
9%
Mutation Carriers
9%
Erythrocyte Protoporphyrin
9%
Glucosylsphingosine
9%
Genotype
9%
Phase II Trial
9%
Disease Manifestations
9%
Porphyrin
9%
Novel mutation
9%
Liver Transplantation
9%
Nave
9%
Quality of Life
8%
Clinical Presentation
8%
Parkinson's Disease Risk
8%
Molecular Diagnostics
8%
Clinical Outcomes
8%
Adverse Events
8%
Disease Progression
8%
Medicine and Dentistry
Gaucher Disease Type 1
49%
Hepatic Porphyria
42%
Erythropoietic Protoporphyria
42%
Porphyria
40%
Acute Intermittent Porphyria
33%
Disease
31%
Eliglustat
30%
Gaucher's Disease
26%
Givosiran
24%
Heme
22%
Quality of Life
16%
Placebo
15%
Acid Lipase
15%
Porphyrin
13%
Hemin
12%
Enzyme Replacement Therapy
12%
RNAi Therapeutics
10%
Porphobilinogen
10%
COVID-19
9%
Aminolevulinic Acid
9%
Patient-Reported Outcome
9%
Parkinson's Disease
9%
Precursor
8%
5 Aminolevulinate Synthase
8%
Infection
8%
Severe Acute Respiratory Syndrome Coronavirus 2
7%
Imiglucerase
7%
Autosomal Dominant Inheritance
7%
Sun Exposure
7%
Newborn Screening
7%
Adverse Event
7%
Clinical Trial
6%
Rare Disease
6%
Porphyria Cutanea Tarda
6%
Platelet
6%
Disease
6%
Pediatrics Patient
6%
Biosynthesis
6%
Counseling
5%
Protoporphyrin
5%
Photosensitivity
5%
Pathophysiology
5%
Splenomegaly
5%
Outcome Assessment
5%
Pediatrics
5%
Diagnosis
5%
Hepatocellular Carcinoma
5%
Genetic Screening
5%
Erythrocyte Protoporphyrin
5%
Homozygote
5%
Pharmacology, Toxicology and Pharmaceutical Science
Gaucher Disease Type 1
48%
Erythropoietic Protoporphyria
38%
Eliglustat
34%
Gaucher's Disease
30%
Hepatic Porphyria
27%
Parkinson's Disease
19%
Acid Lipase
19%
Porphyria
19%
Sebelipase Alfa
17%
Placebo
17%
Givosiran
17%
Heme
14%
Disease
12%
Replacement Therapy
12%
Aminolevulinic Acid
10%
5 Aminolevulinate Synthase
9%
Porphobilinogen
9%
Adverse Event
9%
Afamelanotide
8%
Hemin
8%
Imiglucerase
8%
Parkinsonism
7%
SARS Coronavirus
7%
Infection
7%
Protoporphyrin IX
7%
Prevalence
6%
Clinical Trial
6%
Aminotransferase
6%
Rare Disease
5%
Pathophysiology
5%
Sun Exposure
5%
Messenger RNA
5%
Porphyria Cutanea Tarda
5%
