Keyphrases
Acid Ceramidase
100%
Spinal muscular Atrophy
100%
Polyarticular Arthritis
100%
Myoclonic Epilepsy
40%
Farber Disease
40%
Amidohydrolase
40%
Diagnostic Challenge
20%
Whole Exome Sequencing
20%
Pathogenicity
20%
Leukocytes
20%
Clinical Phenotype
20%
Proband
20%
Compound Heterozygous mutation
20%
Clinical Spectrum
20%
Functional Assay
20%
Arthritis
20%
Dysphonia
20%
Epilepsy Syndrome
20%
Motor Neuron Disease
20%
Subcutaneous Nodules
20%
Pathogenic mutations
20%
Survival Motor Neuron
20%
Phenotypic Spectrum
20%
Medicine and Dentistry
Arthritis
100%
Acid Ceramidase
100%
Spinal Muscular Atrophy
100%
Lafora Disease
40%
Ceramide
40%
Farber Disease
40%
Amidase
40%
Leukocyte
20%
Diagnosis
20%
Exome Sequencing
20%
Dysphonia
20%
Subcutaneous Nodule
20%
Motor Neuron Disease
20%
Pathogenicity
20%
Pharmacology, Toxicology and Pharmaceutical Science
Arthritis
100%
Acid Ceramidase
100%
Spinal Muscular Atrophy
100%
Ceramide
40%
Myoclonus Epilepsy
40%
Farber Disease
40%
Amidase
40%
Pathogenicity
20%
Dysphonia
20%
Motor Neuron Disease
20%
Subcutaneous Nodule
20%
Biochemistry, Genetics and Molecular Biology
Ceramidase
100%
Farber Disease
50%
Amidase
50%
Ceramide
50%
Leukocyte
25%
Exome Sequencing
25%
Proband
25%
Motor Neuron
25%
Survival of Motor Neuron
25%
Immunology and Microbiology
Arthritis
100%
Amidase
50%
Leukocyte
25%
Pathogenicity
25%
Whole Exome Sequencing
25%