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Biochemistry, Genetics and Molecular Biology
Deficiency
100%
Tandem Mass Spectrometry
24%
Enzyme
22%
Exon
19%
Ornithine Transcarbamylase Deficiency
16%
High-Performance Liquid Chromatography
15%
Newborn Screening
13%
Liquid Chromatography-Mass Spectrometry
12%
Arginase
11%
RNA Splicing
11%
Digital Positive Youth Development
11%
Dihydropyrimidine Dehydrogenase
11%
21-Hydroxylase
11%
Dried Blood Spot
11%
Structural Protein
11%
Dihydropyrimidinase
11%
Genetics
11%
Acyl-CoA
10%
Intron
9%
Metabolic Pathway
9%
Fluorouracil
8%
Genotyping
8%
Glutamine
8%
Enzyme Activity
8%
Alanine
8%
Missense
7%
Gene Analysis
7%
Prevalence
7%
Autosomal Recessive Inheritance
7%
Oxidoreductase
7%
Missense Mutation
6%
Electrospray Ionization
6%
Uracil
6%
Minigene
6%
Fluorescence in Situ Hybridization
6%
Urea Cycle Disorder
6%
Enzymatic Activity
6%
Drug Toxicity
5%
Beta Oxidation
5%
Dehydrogenase
5%
Amino Acid Metabolism
5%
Preimplantation
5%
Synthase
5%
Virilization
5%
Sphingomyelin Phosphodiesterase 1
5%
Whole Genome Sequencing
5%
Isovaleryl-CoA
5%
Electrophoresis
5%
Alkaline Phosphatase
5%
Biotin
5%
Keyphrases
Phenylketonuria
25%
Ornithine Transcarbamylase Deficiency
23%
Living Donor Liver Transplantation
17%
Tandem Mass Spectrometry
15%
L-carnitine
15%
Carnitine
13%
Novel mutation
12%
Japan
12%
High Performance Liquid Chromatography-tandem Mass Spectrometry (HPLC-MS/MS)
12%
Inosine Triphosphate
11%
Pivalic Acid
11%
Pegvaliase
11%
Coenzyme A
11%
Pathogenic Variants
11%
Galactosemia
11%
Novel Type
11%
Biallelic
11%
Oxidative Stress
11%
Functional Analysis
11%
Arginase Deficiency
11%
5-fluorouracil (5-FU)
11%
Dried Blood Spots
11%
Japanese Adults
11%
Phenylalanine
11%
Hyperammonemia
11%
Urea Cycle Disorders
10%
Antibiotics
10%
Metabolic Disorders
9%
Antioxidant
8%
Japanese Population
8%
Medium-chain acyl-CoA Dehydrogenase Deficiency (MCADD)
8%
Long-term Treatment
7%
Pediatric Patients
7%
Late-onset
7%
Biological Antioxidant Potential
7%
Inborn Errors of Metabolism
7%
Blood Phenylalanine
7%
Dihydropyrimidine Dehydrogenase
7%
Dihydropyrimidinase
7%
Liquid Chromatography-tandem Mass Spectrometry (LC-MS/MS)
7%
White Blood Cells
7%
Interleukin-10
7%
Long-term Safety
7%
Japanese Patients
7%
Treatment-related Adverse Events
6%
Metabolic Crisis
6%
Metabolic Disturbances
6%
Fluoropyrimidine
6%
Drug Toxicity
6%
Japanese Case
6%
Medicine and Dentistry
Liver Transplantation
29%
Phenylketonuria
20%
Phenylalanine
17%
Ornithine Transcarbamylase Deficiency
17%
Inborn Error of Metabolism
14%
Hyperammonemia
12%
Neonatal Infant
12%
Hypoglycemia
12%
Newborn Screening
11%
Pegvaliase
11%
Cancer Growth Factor
11%
Brain Blood Flow
11%
Cross Sectional Study
11%
Living Donors
11%
Fibrinogen
11%
Leukomalacia
11%
Urea Cycle Disorder
10%
Diseases
9%
Blood Flow
8%
Blood Flow Velocity
8%
Mean Arterial Pressure
8%
Antioxidant
8%
Cerebrospinal Fluid
7%
Outpatient
7%
Liver Graft
7%
Nephrotic Syndrome
7%
Glycogen Storage Disease
7%
Pediatrics Patient
7%
Acute Graft Rejection
7%
Blood Glucose
6%
Urinary System
6%
Oxidative Stress
6%
Hypoxic Ischemic Encephalopathy
6%
Quality of Life
6%
Genetics
6%
Adverse Event
6%
Neonatal Sepsis
5%
Interleukin 8
5%
Philadelphia 1 Chromosome
5%
Brain Imaging
5%
Chylous Ascites
5%
Protein Restriction
5%
Maple Syrup Urine Disease
5%
Citrullinemia
5%
Allopurinol
5%
Steroid 21 Monooxygenase Deficiency
5%
Virilization
5%
Salt Wasting
5%
Mass Screening
5%
Galactosemia
5%
