Keyphrases
Newborn Screening
100%
Photosystem II
63%
Denmark
63%
Glutaric Aciduria
43%
Glutaryl-CoA Dehydrogenase
35%
L-carnitine
34%
3M Syndrome
31%
OBSL1
31%
Phenylketonuria
31%
Cysteamine
31%
Increased nuchal Translucency
31%
Isovaleric Acidemia
31%
Kidney Transplantation
31%
Bone Metabolism Markers
31%
Heparan Sulfate
31%
Carnitine Palmitoyltransferase 1A (CPT1A)
31%
Mutant Alleles
31%
Allelic Variation
31%
Osteogenesis Imperfecta
31%
Marfan Syndrome
31%
Medium-chain acyl-CoA Dehydrogenase Deficiency
31%
Hereditary Disease
31%
Protein Diet
31%
Inherited Metabolic Diseases
31%
Dysplasia
31%
MCAD Deficiency
31%
Clinical Phenotype
31%
Metachromatic Leukodystrophy
31%
Collagen
31%
Glutaric
31%
Glutaconic Acid
31%
COL2A1
31%
High Incidence
31%
Disaccharides
31%
In-frame Deletion
31%
Dermatan Sulfate
31%
Growth Charts
31%
Free Carnitine
31%
Biological Aspects
31%
Multidisciplinary Management
31%
Diagnosis Management
31%
European Recommendations
31%
Natural Proteins
31%
Faroe Islands
31%
Expanded Newborn Screening
31%
Biochemical Screening
31%
Improved Prognosis
31%
Heterozygosity
31%
Glycine Substitution
31%
Gene Expression
31%
Biochemistry, Genetics and Molecular Biology
Newborn Screening
68%
Autosomal Recessive Disorder
39%
Allele
39%
Oxidoreductase
35%
Genotyping
34%
Blood Plasma
31%
IGFBP2
31%
Medium-Chain Acyl-CoA Dehydrogenase
31%
Genetic Divergence
31%
Mosaicism
31%
Marfan's Syndrome
31%
Hurler Syndrome
31%
Sanfilippo Syndrome
31%
Bone Development
31%
Carnitine Palmitoyltransferase I
31%
Heterozygosity
31%
Dysplasia
31%
Metabolic Pathway
31%
Fibroblast Growth Factor Receptor 3
31%
Acyl-CoA
31%
Dehydrogenase
31%
Leucine
31%
Bone Remodeling
31%
Unspecific Monooxygenase
31%
C-Terminus
30%
Klinefelter Syndrome
23%
Cysteine
21%
Enzyme Activity
21%
Fibroblast
19%
Multiplex Ligation-Dependent Probe Amplification
15%
Oxidation
15%
Choline
15%
RNA
15%
Insulin-Like Growth Factor-Binding Protein
15%
Liquid
15%
Biochemistry
15%
Messenger RNA
15%
Karyotype 47,XXY
15%
Candidate Gene
15%
Essential Amino Acid
15%
N-Terminus
15%
Medicine and Dentistry
Hunter Syndrome
63%
Newborn Screening
63%
Disease
56%
Organic Acidemia
42%
Neonatal Infant
39%
Phenylketonuria
36%
Metabolic Disorder
36%
Heparan Sulfate
31%
Growth Chart
31%
Hurler Syndrome
31%
Mucopolysaccharidosis
31%
Dermatan Sulfate
31%
Sanfilippo Syndrome
31%
N Methyl-D-Aspartate Receptor
31%
Disaccharide
31%
Cysteamine
31%
Cystinosis
31%
Nuchal Translucency Measurement
31%
Marfan Syndrome
31%
Protein Diet
31%
Neurotoxicity
31%
Unspecific Monooxygenase
31%
Dysplasia
31%
Amino Acid
21%
Cysteine
21%
Carboxy Terminal Sequence
21%
Achondroplasia
15%
Metabolite
15%
Dried Blood Spot
15%
Trimethylamine
15%
