Keyphrases
Amino Acid Metabolism
40%
Aneurysm Pathogenesis
40%
Antitumor Activity
40%
Aortic Root Aneurysm
40%
ATP-binding Cassette Transporter A1 (ABCA1)
40%
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
40%
Chediak-Higashi Syndrome
81%
Chinese Subjects
40%
CHST14
40%
Cognitive Outcome
40%
Connective Tissue Disease
40%
Controlled Release Polymers
40%
Ectopic Calcification
40%
Enzyme Replacement Therapy
40%
Epirubicin
40%
Familial Pulmonary Fibrosis
40%
Fibroinflammatory Disease
40%
Functional Studies
40%
Gaucher Disease
62%
Generalized Arterial Calcification of Infancy
40%
Glucocerebrosidase
46%
Glucocerebrosidase Gene
51%
Glucocerebrosidase mutations
40%
Hermansky-Pudlak Syndrome
40%
Hypercementosis
40%
Idiopathic Parkinson's Disease
40%
In Silico Study
40%
Inborn Errors
40%
Lineage-specific
40%
Loeys-Dietz Syndrome
61%
Medial Arterial Calcification
40%
Melanophilin
40%
Musculocontractural
40%
National Institutes of Health
54%
Natural History
51%
Neurological Involvement
81%
Neuronopathic Gaucher Disease
40%
Pathophysiology
57%
Precision Medicine
81%
Pseudoxanthoma Elasticum
40%
Pulmonary Fibrosis
45%
Sequence Variation
40%
Specific Events
40%
Syndrome Type
40%
Taiwan
40%
Therapeutic Advances
40%
Tissue-nonspecific Alkaline Phosphatase
40%
Undiagnosed Diseases Network
54%
Vascular Calcification
40%
Vascular Smooth muscle Cells
40%
Biochemistry, Genetics and Molecular Biology
Adenosine
65%
Adenosine Monophosphate
16%
Adenosine Triphosphate
40%
Albinism
13%
Alkaline Phosphatase
65%
Amino Acid Metabolism
40%
Amino Acids
35%
Autosomal Recessive Inheritance
40%
C-Reactive Protein
40%
Calcium Phosphate
16%
Candidate Gene
61%
Cell Mutant
20%
Cell Proliferation
20%
Chondroitin Sulfate
20%
Clinical Trial
40%
Dermatan Sulfate
40%
Ectopic Calcification
40%
Enzyme
19%
Exome Sequencing
40%
Exon
29%
Fibroblast
48%
Fibroblast Growth Factor 23
20%
Fibrocystin
20%
Gene Expression Profiling
40%
Genetic Screening
61%
Genetics
75%
Genome Sequencing
40%
Genotyping
24%
Germ Cell
20%
Germline
20%
Glucocerebrosidase
81%
Glucosylceramidase
81%
Hermansky-Pudlak Syndrome
40%
HPS1
18%
Infancy
40%
Liquid
20%
Melanophilin
40%
Messenger RNA
12%
Missense
30%
Mouse Model
13%
Mutated Genes
10%
NT5E
40%
Proband
17%
Proteomics
40%
Pseudoxanthoma Elasticum
40%
Rickets
13%
Signal Transduction
10%
Tricalcium Phosphate
16%
Tumor Necrosis Factor
20%
Tumor Necrosis Factor Alpha
20%
Medicine and Dentistry
Adenosine
40%
Adenosine Triphosphate
40%
Alkaline Phosphatase
40%
Artery Calcification
81%
Autosomal Recessive Inheritance
40%
Bleeding
10%
Blood Vessel Calcification
57%
C Reactive Protein
16%
Calcification
40%
Cell Mutant
20%
Chediak Higashi Syndrome
81%
Clinical Feature
10%
Connective Tissue Disease
47%
Dermatan Sulfate
13%
Disease
34%
Disease
16%
Diseases
100%
Ehlers Danlos Syndrome
40%
Exon
13%
Fibroblast
40%
Fibrocystin
13%
Gaucher Disease Type 3
27%
Gene Expression Profiling
16%
Genetic Screening
13%
Hydroxychloroquine
16%
Hypercementosis
40%
Hypophosphatemia
13%
Hypophosphatemic Rickets
40%
In Vitro
14%
Infancy
40%
Liver Fibrosis
40%
Loeys-Dietz Syndrome
20%
Magnetic Resonance Imaging
10%
Marfan Syndrome
20%
Neurologic Disease
10%
Pathophysiology
15%
Patient Care
25%
Patient Counseling
20%
Personalized Medicine
81%
Polycystic Kidney Disease
40%
Polyneuropathy
10%
Proteomics
16%
Pseudoxanthoma Elasticum
81%
Pulmonary Fibrosis
40%
Rickets
13%
Silo-Filler's Disease
18%
Spasticity
10%
Telomerase
40%
Trismus
16%
Vascular Disease
40%
