Keyphrases
Galactosemia
100%
Biochemical Markers
100%
Outcome Markers
100%
Deep Phenotyping
100%
Clinical Outcomes
100%
Movement Disorders
40%
Primary Ovarian Insufficiency
30%
Glucose-1-phosphate
30%
Intellectual Outcome
30%
Phosphate Levels
30%
Long-term Complications
20%
Brain MRI
20%
Prognostic Biomarker
20%
Brain Abnormalities
20%
Newborn Screening
20%
Genotype-phenotype
20%
Glycan Profiling
20%
Magnetic Resonance Imaging
10%
Central Nervous System
10%
Non-associated
10%
Outpatient Clinic
10%
Natural History
10%
Amsterdam
10%
University Medical Centre
10%
Early Diagnosis
10%
Galactose
10%
Diagnosis Treatment
10%
Neurologist
10%
N-glycan
10%
Diet Therapy
10%
MRI Outcomes
10%
Individual Evaluation
10%
Serum Immunoglobulin G
10%
Standardized Evaluation
10%
INIS
patients
100%
levels
33%
brain
33%
galactose
33%
phosphates
25%
nmr imaging
25%
biological markers
25%
ovaries
25%
screening
16%
phenotype
16%
genotype
16%
newborns
16%
data
8%
images
8%
females
8%
correlations
8%
variations
8%
central nervous system
8%
evaluation
8%
guidelines
8%
immunoglobulins
8%
universities
8%
medical centers
8%
Pharmacology, Toxicology and Pharmaceutical Science
Galactosemia
100%
Biochemical Marker
100%
Motor Dysfunction
44%
Galactose
44%
Biological Marker
33%
Glycan
33%
Phosphate
33%
Premature Ovarian Failure
33%
Immunoglobulin G
11%
Biochemistry, Genetics and Molecular Biology
Galactose 1-Phosphate
100%
Polysaccharide
100%
Newborn Screening
66%
Immunoglobulin G
33%
Quantitative Technique
33%
Immunoglobulin Blood Level
33%
Galactose
33%