Medicine and Dentistry
Pyridoxine-Dependent Epilepsy
100%
Disease
65%
Lysine
63%
Magnetic Resonance Imaging
60%
Pyridoxine
56%
Epileptic Seizure
45%
Monocarboxylate Transporter 8
40%
Molybdenum Cofactor
40%
Childbirth
32%
Pediatrics
31%
Inborn Error of Metabolism
31%
Minimal Brain Dysfunction
30%
Infantile Spasm
26%
Stereotypic Movement Disorder
25%
Ventriculomegaly
25%
Cyclic Pyranopterin Phosphate
25%
Oxidoreductase
22%
Cohort Analysis
22%
Neonatal Infant
21%
Cross Sectional Study
20%
Phenylalanine
20%
Retrospective Study
20%
Finger
20%
Prematurity
20%
Arm
20%
Dystonia
20%
Intelligence Quotient
20%
mTOR Signaling
20%
Neuropathy
20%
Liothyronine
20%
Developmental Coordination Disorder
20%
Bilirubin
20%
Microcephaly
20%
Ataxia
20%
Rating Scale
20%
Type I Tyrosinemia
20%
Melatonin
20%
Developmental Delay
20%
Tiratricol
20%
Ubiquitin
20%
Corpus Callosum
20%
Protein Deficiency
20%
Pediatric Neurology
20%
Eye Movement Disorder
20%
Autosomal Recessive Inheritance
15%
Exome Sequencing
15%
Epileptic Absence
13%
Infancy
13%
Life Expectancy
13%
Fatty Acid Oxidation
13%
Keyphrases
Early Onset Ataxia
60%
Pyridoxine-dependent Epilepsy
60%
Pyridoxine
41%
Minor Neurological Dysfunction
40%
Ataxia Rating Scales
40%
Therapy Outcome
40%
Ataxia
37%
PDE-ALDH7A1
34%
Late-onset
34%
Lysine
33%
Movement Disorders
29%
Cognitive Outcome
28%
Interobserver Agreement
28%
Neurodevelopmental Disorders
22%
Cerebellar Dysgenesis
20%
Age-dependent
20%
Melatonin
20%
Axonal Neuropathy
20%
PACS2
20%
Burke-Fahn-Marsden Dystonia Rating Scale
20%
Bilirubin
20%
Movement Scale
20%
Central Hypotonia
20%
Disability Scale
20%
Puberty
20%
Hospital Setting
20%
General Hospital
20%
D-bifunctional Protein Deficiency
20%
Favorable Outcome
20%
Sequence Deletion
20%
Neuropediatrician
20%
Late Preterm Infant
20%
UBA5
20%
School Age
20%
Discriminant Validity
20%
Healthy children
20%
Cyclic Pyranopterin Monophosphate
20%
Thalamic Involvement
20%
Molybdenum Cofactor
20%
Hypomyelination
20%
Reliability Validity
20%
Knock-in Mouse Model
20%
Microcephaly
20%
Inborn Errors of Metabolism
20%
Neurodevelopmental Syndrome
20%
Eye Movement Disorders
20%
Ventriculomegaly
20%
Gain-of-function mutation
20%
Corpus Callosum
20%
Neurodevelopmental Outcome
20%
Biochemistry, Genetics and Molecular Biology
Monocarboxylate Transporter
40%
GRIN2A
40%
Pyridoxine
40%
Missense
34%
Lysine
33%
Intellectual Disability
33%
ALDH7A1
25%
Magnetism
25%
Fibroblast
23%
Exome Sequencing
21%
Molybdenum Cofactor
20%
Quantitative Technique
20%
Cohort Study
20%
Dehydrogenase
20%
Tetrahydrobiopterin
20%
mTOR Signaling
20%
Life Expectancy
20%
Liothyronine
20%
Triiodothyronine
20%
Bilirubin
20%
Knockout Mouse
20%
Oxidoreductase
20%
Beta Oxidation
20%
Autosomal Recessive Inheritance
20%
Genotyping
20%
Ubiquitin
20%
Furin
13%
Protein Targeting
13%
Enzyme
13%
Eicosanoid Receptor
11%
Cell Migration
10%
Biochemical Analysis
10%
Random Forest
10%
Lysosome
10%
Myelination
10%
GTPase-activating Protein
10%
RNA Sequence
10%
Infancy
9%
Spike
8%
Thyroid Hormone
8%
Phenylalanine
6%
Homozygosity
6%
Sanger Sequencing
6%
Western Blot
6%
Precursor
6%
Homovanillic Acid
6%
Protein Expression
6%
Phenylalanine Hydroxylase
6%
Genetics
6%
Compound Heterozygosity
6%
