Keyphrases
Rare Cause
100%
Pediatric Case
100%
Molybdenum Cofactor Deficiency
100%
Xanthinuria
100%
Hypotonia
50%
Molybdenum Cofactor
50%
Whole Exome Sequencing
25%
High Mortality
25%
Compound Heterozygous mutation
25%
Young Age
25%
Neonate
25%
Young Female
25%
Microcephaly
25%
Multi-enzyme
25%
Near-complete
25%
Intractable Seizures
25%
5-year-old
25%
Serum Uric Acid
25%
Global Developmental Delay
25%
Inborn Errors of Metabolism
25%
Empirical Therapy
25%
Deficiency Diseases
25%
Xanthine
25%
Cerebral Atrophy
25%
Early Seizures
25%
Genetic Results
25%
Energy Levels
25%
Feeding Difficulties
25%
Heterozygous Pathogenic Variants
25%
Urine Alkalinization
25%
Ectopia Lentis
25%
Pyridoxine
25%
Stone Burden
25%
Xanthine Dehydrogenase
25%
Low Purine
25%
Hyperekplexia
25%
Medicine and Dentistry
Pediatrics
100%
Xanthinuria
100%
Molybdenum Cofactor
100%
Hypotonia
33%
Cerebral Atrophy
16%
Epileptic Seizure
16%
Neonate
16%
Supplementation
16%
Intractable Epilepsy
16%
Developmental Delay
16%
Exome Sequencing
16%
Microcephaly
16%
Inborn Error of Metabolism
16%
Purine
16%
Uric Acid
16%
Ectopia Lentis
16%
Pyridoxine
16%
Hyperekplexia
16%
Xanthine Dehydrogenase
16%
Attention
16%
Xanthine
16%
Pharmacology, Toxicology and Pharmaceutical Science
Molybdenum Cofactor
100%
Xanthinuria
100%
Muscle Hypotonia
33%
Developmental Delay
16%
Inborn Error of Metabolism
16%
Intractable Epilepsy
16%
Xanthine
16%
Hydration
16%
Purine
16%
Microcephaly
16%
Uric Acid
16%
Brain Atrophy
16%
Pyridoxine
16%
Ectopia Lentis
16%
Xanthine Dehydrogenase
16%
Hyperekplexia
16%
Biochemistry, Genetics and Molecular Biology
Molybdenum Cofactor
100%
Enzyme
16%
Genetics
16%
Exome Sequencing
16%
Uric Acid Blood Level
16%
Inborn Error of Metabolism
16%
Attention
16%
Pyridoxine
16%
Xanthine Dehydrogenase
16%