Name | Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
---|
Phenylketonurias | 24 | 2023 | 126 | 6.920 |
Why?
|
Neonatal Screening | 20 | 2023 | 597 | 3.020 |
Why?
|
Phenylalanine | 10 | 2020 | 365 | 2.070 |
Why?
|
Phenylalanine Hydroxylase | 5 | 2022 | 28 | 1.920 |
Why?
|
Metabolism, Inborn Errors | 10 | 2023 | 284 | 1.710 |
Why?
|
Homocystinuria | 5 | 2023 | 64 | 1.640 |
Why?
|
Amino Acid Metabolism, Inborn Errors | 5 | 2021 | 283 | 1.440 |
Why?
|
Vitamin B 12 Deficiency | 2 | 2019 | 118 | 1.110 |
Why?
|
Phenylketonuria, Maternal | 6 | 2012 | 15 | 0.880 |
Why?
|
Lipid Metabolism, Inborn Errors | 2 | 2017 | 123 | 0.850 |
Why?
|
Carnitine | 4 | 2018 | 252 | 0.830 |
Why?
|
Propionic Acidemia | 2 | 2021 | 9 | 0.760 |
Why?
|
Vitamin B 12 | 2 | 2019 | 524 | 0.750 |
Why?
|
Maple Syrup Urine Disease | 2 | 2018 | 40 | 0.710 |
Why?
|
Caseins | 3 | 2018 | 104 | 0.700 |
Why?
|
Enzyme Replacement Therapy | 2 | 2018 | 80 | 0.680 |
Why?
|
Galactosemias | 4 | 2023 | 124 | 0.650 |
Why?
|
Phenylalanine Ammonia-Lyase | 1 | 2018 | 11 | 0.630 |
Why?
|
Urea Cycle Disorders, Inborn | 1 | 2018 | 32 | 0.610 |
Why?
|
Foods, Specialized | 1 | 2016 | 4 | 0.550 |
Why?
|
Glycine N-Methyltransferase | 1 | 2016 | 2 | 0.550 |
Why?
|
Food, Formulated | 1 | 2017 | 100 | 0.540 |
Why?
|
Methionine | 3 | 2016 | 572 | 0.540 |
Why?
|
Kynurenine | 1 | 2017 | 141 | 0.540 |
Why?
|
Infant, Newborn | 30 | 2023 | 26180 | 0.510 |
Why?
|
Brain Diseases, Metabolic, Inborn | 2 | 2013 | 46 | 0.500 |
Why?
|
Tryptophan | 1 | 2017 | 482 | 0.480 |
Why?
|
Medicine | 1 | 2022 | 942 | 0.460 |
Why?
|
Dietary Proteins | 2 | 2016 | 951 | 0.450 |
Why?
|
Amino Acids, Neutral | 1 | 2013 | 3 | 0.430 |
Why?
|
Metabolic Diseases | 2 | 2017 | 680 | 0.430 |
Why?
|
Acute Disease | 3 | 2018 | 7237 | 0.420 |
Why?
|
Tyrosine | 1 | 2017 | 1440 | 0.410 |
Why?
|
Mass Spectrometry | 6 | 2023 | 2189 | 0.390 |
Why?
|
Melatonin | 2 | 2017 | 669 | 0.380 |
Why?
|
Genotype | 5 | 2020 | 12978 | 0.370 |
Why?
|
Genetic Association Studies | 2 | 2020 | 2734 | 0.370 |
Why?
|
Genetic Techniques | 1 | 2013 | 428 | 0.360 |
Why?
|
Fatty Acids | 3 | 2018 | 1808 | 0.350 |
Why?
|
Acyl-CoA Dehydrogenase | 4 | 2017 | 57 | 0.340 |
Why?
|
Lysosomal Storage Diseases | 1 | 2010 | 79 | 0.340 |
Why?
|
Death, Sudden | 1 | 2010 | 301 | 0.300 |
Why?
|
Genetic Diseases, Inborn | 2 | 2010 | 604 | 0.300 |
Why?
|
Betaine | 2 | 2018 | 90 | 0.300 |
Why?
|
Peptide Fragments | 3 | 2018 | 5110 | 0.290 |
Why?
|
Diet | 2 | 2017 | 8048 | 0.290 |
Why?
|
Health Planning Guidelines | 1 | 2007 | 151 | 0.280 |
Why?
|
Physicians | 2 | 2022 | 4583 | 0.280 |
Why?
|
Glutamate-Ammonia Ligase | 1 | 2005 | 75 | 0.250 |
Why?
|
Leukodystrophy, Globoid Cell | 1 | 2005 | 38 | 0.250 |
Why?
|
Critical Care | 1 | 2018 | 2690 | 0.250 |
Why?
|
Amino Acids | 3 | 2022 | 1717 | 0.250 |
Why?
|
Glutamine | 2 | 2005 | 576 | 0.250 |
Why?
|
Rare Diseases | 1 | 2010 | 622 | 0.250 |
Why?
|
Phenotype | 5 | 2020 | 16571 | 0.230 |
Why?
|
High-Throughput Nucleotide Sequencing | 2 | 2023 | 3634 | 0.220 |
Why?
|
Sequence Analysis, DNA | 1 | 2014 | 4739 | 0.220 |
Why?
|
Disease Management | 4 | 2018 | 2506 | 0.220 |
Why?
|
Spinal Cord Diseases | 1 | 2006 | 291 | 0.210 |
Why?
|
Humans | 60 | 2023 | 760617 | 0.210 |
Why?
|
Glutarates | 1 | 2004 | 243 | 0.210 |
Why?
|
Medication Adherence | 1 | 2014 | 2174 | 0.210 |
Why?
|
Homocysteine | 1 | 2006 | 638 | 0.210 |
Why?
|
Intelligence | 3 | 2003 | 923 | 0.200 |
Why?
|
Acyl-CoA Dehydrogenases | 1 | 2002 | 24 | 0.200 |
Why?
|
Cross-Over Studies | 3 | 2018 | 2079 | 0.200 |
Why?
|
Minisatellite Repeats | 1 | 2003 | 163 | 0.200 |
Why?
|
Mutation | 8 | 2020 | 30016 | 0.190 |
Why?
|
Dietary Supplements | 2 | 2018 | 3411 | 0.180 |
Why?
|
Pregnancy Complications | 4 | 2014 | 2948 | 0.180 |
Why?
|
UTP-Hexose-1-Phosphate Uridylyltransferase | 2 | 2019 | 68 | 0.180 |
Why?
|
Infant, Newborn, Diseases | 2 | 2005 | 589 | 0.180 |
Why?
|
Hyperhomocysteinemia | 3 | 2006 | 118 | 0.180 |
Why?
|
Parents | 2 | 2004 | 3563 | 0.170 |
Why?
|
Acidosis | 1 | 2021 | 268 | 0.160 |
Why?
|
Infant | 12 | 2023 | 36152 | 0.160 |
Why?
|
Stress, Psychological | 2 | 2004 | 4488 | 0.160 |
Why?
|
Parenting | 1 | 2004 | 702 | 0.150 |
Why?
|
Ecosystem | 1 | 2022 | 487 | 0.150 |
Why?
|
Emergency Medicine | 2 | 2018 | 1197 | 0.150 |
Why?
|
Neurodegenerative Diseases | 2 | 2011 | 1085 | 0.150 |
Why?
|
Metabolomics | 2 | 2018 | 1656 | 0.150 |
Why?
|
Head | 1 | 2003 | 922 | 0.150 |
Why?
|
History, 20th Century | 4 | 2016 | 2764 | 0.150 |
Why?
|
Heart Defects, Congenital | 2 | 2012 | 4671 | 0.140 |
Why?
|
Fatty Acids, Essential | 1 | 2018 | 97 | 0.140 |
Why?
|
Genomics | 1 | 2013 | 5822 | 0.140 |
Why?
|
Germany | 1 | 2019 | 872 | 0.140 |
Why?
|
Prebiotics | 1 | 2017 | 41 | 0.140 |
Why?
|
Tandem Mass Spectrometry | 3 | 2019 | 1186 | 0.140 |
Why?
|
Acyl-CoA Dehydrogenase, Long-Chain | 1 | 2017 | 49 | 0.140 |
Why?
|
Hypogonadism | 1 | 2023 | 798 | 0.140 |
Why?
|
Biological Availability | 1 | 2017 | 389 | 0.130 |
Why?
|
Infertility | 1 | 2023 | 654 | 0.130 |
Why?
|
Catecholamines | 1 | 2017 | 387 | 0.130 |
Why?
|
Hyperammonemia | 1 | 2017 | 76 | 0.130 |
Why?
|
Female | 32 | 2023 | 392148 | 0.130 |
Why?
|
Male | 20 | 2022 | 360358 | 0.120 |
Why?
|
Amino Acid Substitution | 1 | 2019 | 1739 | 0.120 |
Why?
|
Adolescent | 12 | 2021 | 88234 | 0.120 |
Why?
|
Enzyme Assays | 2 | 2019 | 104 | 0.120 |
Why?
|
Hunger | 1 | 2016 | 205 | 0.120 |
Why?
|
Pregnancy | 12 | 2023 | 29868 | 0.110 |
Why?
|
Pancreatitis | 1 | 2021 | 1097 | 0.110 |
Why?
|
Child, Preschool | 8 | 2019 | 42188 | 0.110 |
Why?
|
Mitochondrial Diseases | 1 | 2017 | 343 | 0.110 |
Why?
|
Diet Therapy | 1 | 2014 | 151 | 0.100 |
Why?
|
Genetic Predisposition to Disease | 3 | 2020 | 17878 | 0.100 |
Why?
|
Child | 13 | 2021 | 80079 | 0.100 |
Why?
|
Metabolic Networks and Pathways | 1 | 2017 | 789 | 0.100 |
Why?
|
Polyethylene Glycols | 1 | 2018 | 1182 | 0.100 |
Why?
|
Erythrocytes | 2 | 2019 | 2410 | 0.100 |
Why?
|
Muscular Diseases | 1 | 2017 | 553 | 0.100 |
Why?
|
Serotonin | 1 | 2017 | 1041 | 0.100 |
Why?
|
Young Adult | 7 | 2019 | 59179 | 0.100 |
Why?
|
Early Diagnosis | 1 | 2017 | 1185 | 0.100 |
Why?
|
Child Development | 1 | 2003 | 2300 | 0.100 |
Why?
|
Alleles | 2 | 2020 | 6861 | 0.100 |
Why?
|
Gaucher Disease | 1 | 2012 | 110 | 0.100 |
Why?
|
Lactation | 1 | 2014 | 397 | 0.100 |
Why?
|
Glucosylceramidase | 1 | 2012 | 128 | 0.100 |
Why?
|
Homozygote | 2 | 2020 | 1776 | 0.090 |
Why?
|
Vitamins | 1 | 2019 | 1635 | 0.090 |
Why?
|
Telephone | 1 | 2014 | 626 | 0.090 |
Why?
|
Fatal Outcome | 2 | 2006 | 1835 | 0.090 |
Why?
|
Oxidation-Reduction | 1 | 2017 | 2231 | 0.090 |
Why?
|
False Positive Reactions | 2 | 2003 | 957 | 0.090 |
Why?
|
Multiple Sclerosis | 1 | 2005 | 3222 | 0.090 |
Why?
|
Analysis of Variance | 3 | 2016 | 6224 | 0.090 |
Why?
|
Monitoring, Physiologic | 1 | 2018 | 1779 | 0.090 |
Why?
|
Adult | 14 | 2021 | 220969 | 0.090 |
Why?
|
History, 21st Century | 1 | 2016 | 1565 | 0.090 |
Why?
|
Cost-Benefit Analysis | 3 | 2010 | 5491 | 0.080 |
Why?
|
Practice Guidelines as Topic | 2 | 2018 | 7389 | 0.080 |
Why?
|
Cholesterol | 1 | 2018 | 2903 | 0.080 |
Why?
|
Polymorphism, Single Nucleotide | 2 | 2007 | 15908 | 0.080 |
Why?
|
Expert Testimony | 1 | 2010 | 364 | 0.080 |
Why?
|
Gastrointestinal Diseases | 1 | 2016 | 1201 | 0.070 |
Why?
|
Transition Temperature | 1 | 2007 | 33 | 0.070 |
Why?
|
Nucleic Acid Denaturation | 1 | 2007 | 110 | 0.070 |
Why?
|
Immunoassay | 1 | 2010 | 744 | 0.070 |
Why?
|
Hydroxocobalamin | 1 | 2006 | 27 | 0.070 |
Why?
|
Public Health | 1 | 2019 | 2669 | 0.070 |
Why?
|
Embryonic and Fetal Development | 2 | 2003 | 420 | 0.070 |
Why?
|
Middle Aged | 8 | 2019 | 220584 | 0.060 |
Why?
|
Median Nerve | 1 | 2006 | 131 | 0.060 |
Why?
|
Data Collection | 1 | 2014 | 3315 | 0.060 |
Why?
|
Referral and Consultation | 1 | 2018 | 3599 | 0.060 |
Why?
|
Cardiomyopathies | 1 | 2017 | 1948 | 0.060 |
Why?
|
Pericardial Effusion | 1 | 2006 | 247 | 0.060 |
Why?
|
Feeding Behavior | 1 | 2016 | 3182 | 0.060 |
Why?
|
Hyperglycinemia, Nonketotic | 1 | 2003 | 2 | 0.060 |
Why?
|
Anxiety | 1 | 2019 | 4570 | 0.060 |
Why?
|
Hydroxymethyl and Formyl Transferases | 1 | 2003 | 18 | 0.060 |
Why?
|
Boston | 1 | 2017 | 9313 | 0.060 |
Why?
|
Patient Satisfaction | 1 | 2016 | 3451 | 0.060 |
Why?
|
Hyperargininemia | 1 | 2003 | 12 | 0.050 |
Why?
|
Methylation | 1 | 2006 | 1077 | 0.050 |
Why?
|
Treatment Outcome | 4 | 2019 | 64568 | 0.050 |
Why?
|
Controlled Clinical Trials as Topic | 1 | 2003 | 186 | 0.050 |
Why?
|
Infant Food | 1 | 2003 | 139 | 0.050 |
Why?
|
Pedigree | 2 | 2012 | 4539 | 0.050 |
Why?
|
Evidence-Based Medicine | 2 | 2014 | 3680 | 0.050 |
Why?
|
Intelligence Tests | 1 | 2003 | 503 | 0.050 |
Why?
|
Food, Fortified | 1 | 2003 | 189 | 0.050 |
Why?
|
Brain Edema | 2 | 2003 | 604 | 0.050 |
Why?
|
United States | 4 | 2019 | 72272 | 0.050 |
Why?
|
Biomedical Research | 1 | 2016 | 3426 | 0.040 |
Why?
|
Fetal Diseases | 1 | 2006 | 913 | 0.040 |
Why?
|
Reference Values | 2 | 2006 | 4919 | 0.040 |
Why?
|
Glutamic Acid | 1 | 2005 | 1175 | 0.040 |
Why?
|
Molecular Biology | 1 | 2023 | 575 | 0.040 |
Why?
|
Fetal Growth Retardation | 1 | 2003 | 580 | 0.040 |
Why?
|
Microcephaly | 1 | 2003 | 425 | 0.040 |
Why?
|
Predictive Value of Tests | 2 | 2006 | 15251 | 0.040 |
Why?
|
Fatty Liver | 1 | 2006 | 787 | 0.040 |
Why?
|
Depression | 1 | 2019 | 8132 | 0.040 |
Why?
|
Mental Disorders | 1 | 2019 | 6826 | 0.040 |
Why?
|
Republic of Korea | 1 | 2021 | 583 | 0.040 |
Why?
|
Birth Weight | 2 | 2003 | 2101 | 0.040 |
Why?
|
Multicenter Studies as Topic | 1 | 2003 | 1700 | 0.040 |
Why?
|
Ovary | 1 | 2023 | 959 | 0.040 |
Why?
|
Diagnostic Errors | 1 | 2006 | 1265 | 0.040 |
Why?
|
Follow-Up Studies | 3 | 2010 | 39063 | 0.040 |
Why?
|
Fertility | 1 | 2023 | 769 | 0.040 |
Why?
|
Spinal Cord | 1 | 2006 | 1807 | 0.040 |
Why?
|
Galactose | 1 | 2019 | 294 | 0.040 |
Why?
|
Pregnancy Outcome | 2 | 2006 | 2921 | 0.040 |
Why?
|
Body Height | 1 | 2003 | 1565 | 0.040 |
Why?
|
Algorithms | 1 | 2018 | 14018 | 0.040 |
Why?
|
Methylamines | 1 | 2018 | 136 | 0.030 |
Why?
|
Quality Assurance, Health Care | 1 | 2006 | 2164 | 0.030 |
Why?
|
Incidence | 1 | 2013 | 21337 | 0.030 |
Why?
|
Developmental Disabilities | 1 | 2003 | 1509 | 0.030 |
Why?
|
Attitude to Health | 1 | 2003 | 2024 | 0.030 |
Why?
|
Social Support | 1 | 2004 | 2174 | 0.030 |
Why?
|
Genetic Counseling | 1 | 2018 | 627 | 0.030 |
Why?
|
Forecasting | 1 | 2003 | 2924 | 0.030 |
Why?
|
Pancreas | 1 | 2021 | 1690 | 0.030 |
Why?
|
Europe | 1 | 2020 | 3413 | 0.030 |
Why?
|
Gene Frequency | 1 | 2020 | 3601 | 0.030 |
Why?
|
Double-Blind Method | 1 | 2007 | 12334 | 0.030 |
Why?
|
Nutritional Requirements | 1 | 2014 | 274 | 0.030 |
Why?
|
Hematopoietic Stem Cell Transplantation | 1 | 2010 | 5672 | 0.020 |
Why?
|
Fasting | 1 | 2018 | 1603 | 0.020 |
Why?
|
Amino Acids, Branched-Chain | 1 | 2014 | 269 | 0.020 |
Why?
|
Muscle, Skeletal | 1 | 2006 | 4947 | 0.020 |
Why?
|
Severity of Illness Index | 2 | 2006 | 15828 | 0.020 |
Why?
|
Health Status | 1 | 2003 | 4075 | 0.020 |
Why?
|
National Institutes of Health (U.S.) | 1 | 2014 | 794 | 0.020 |
Why?
|
Animals | 3 | 2023 | 168201 | 0.020 |
Why?
|
Case-Control Studies | 2 | 2006 | 22148 | 0.020 |
Why?
|
Lipid Metabolism | 1 | 2018 | 1896 | 0.020 |
Why?
|
Parenteral Nutrition | 1 | 2014 | 659 | 0.020 |
Why?
|
Brain | 2 | 2006 | 27101 | 0.020 |
Why?
|
Research Design | 1 | 2003 | 6174 | 0.020 |
Why?
|
Family | 1 | 2018 | 3193 | 0.020 |
Why?
|
Organic Cation Transport Proteins | 1 | 2006 | 61 | 0.020 |
Why?
|
Energy Intake | 1 | 2014 | 2132 | 0.020 |
Why?
|
HELLP Syndrome | 1 | 2006 | 40 | 0.020 |
Why?
|
Prenatal Care | 2 | 2003 | 1140 | 0.020 |
Why?
|
Heterozygote | 1 | 2012 | 2780 | 0.020 |
Why?
|
Health Care Costs | 1 | 2018 | 3238 | 0.020 |
Why?
|
Aminomethyltransferase | 1 | 2003 | 1 | 0.010 |
Why?
|
Germ-Line Mutation | 1 | 2012 | 1852 | 0.010 |
Why?
|
Hospitalization | 1 | 2003 | 10704 | 0.010 |
Why?
|
Amino Acids, Basic | 1 | 2003 | 9 | 0.010 |
Why?
|
Maternal-Fetal Exchange | 1 | 2006 | 461 | 0.010 |
Why?
|
Sensitivity and Specificity | 1 | 2019 | 14648 | 0.010 |
Why?
|
Arginase | 1 | 2003 | 78 | 0.010 |
Why?
|
Maternal Age | 1 | 2006 | 809 | 0.010 |
Why?
|
Retrospective Studies | 3 | 2019 | 80566 | 0.010 |
Why?
|
Tomography, X-Ray Computed | 1 | 2005 | 20556 | 0.010 |
Why?
|
Ammonia | 1 | 2003 | 237 | 0.010 |
Why?
|
Risk Assessment | 2 | 2018 | 23972 | 0.010 |
Why?
|
Magnetic Resonance Imaging | 2 | 2005 | 36402 | 0.010 |
Why?
|
Probability | 1 | 2006 | 2475 | 0.010 |
Why?
|
Infant Nutritional Physiological Phenomena | 1 | 2003 | 351 | 0.010 |
Why?
|
Confidence Intervals | 1 | 2006 | 2925 | 0.010 |
Why?
|
Glycine | 1 | 2003 | 661 | 0.010 |
Why?
|
Disease Models, Animal | 1 | 2019 | 18221 | 0.010 |
Why?
|
Arginine | 1 | 2003 | 933 | 0.010 |
Why?
|
Prospective Studies | 1 | 2003 | 54360 | 0.010 |
Why?
|
Risk Factors | 1 | 2006 | 74115 | 0.010 |
Why?
|
Molecular Diagnostic Techniques | 1 | 2003 | 610 | 0.010 |
Why?
|
Statistics, Nonparametric | 1 | 2003 | 2849 | 0.010 |
Why?
|
Herpesvirus 4, Human | 1 | 2003 | 1077 | 0.010 |
Why?
|
Liver | 2 | 2003 | 7512 | 0.010 |
Why?
|
Gestational Age | 1 | 2006 | 3577 | 0.010 |
Why?
|
Prenatal Diagnosis | 1 | 2003 | 1265 | 0.010 |
Why?
|
Mice | 1 | 2023 | 81368 | 0.010 |
Why?
|
Lymphocytes | 1 | 2003 | 2604 | 0.010 |
Why?
|
Disease Progression | 1 | 2011 | 13495 | 0.010 |
Why?
|
Regression Analysis | 1 | 2003 | 6338 | 0.010 |
Why?
|
Odds Ratio | 1 | 2006 | 9643 | 0.010 |
Why?
|
Renal Dialysis | 1 | 2003 | 1799 | 0.010 |
Why?
|
Polymorphism, Genetic | 1 | 2003 | 4242 | 0.010 |
Why?
|
Base Sequence | 1 | 2003 | 12421 | 0.010 |
Why?
|
Molecular Sequence Data | 1 | 2003 | 17629 | 0.010 |
Why?
|
Logistic Models | 1 | 2003 | 13245 | 0.000 |
Why?
|
Kidney | 1 | 2003 | 7045 | 0.000 |
Why?
|
Cognition | 1 | 2003 | 6987 | 0.000 |
Why?
|
Aged | 1 | 2019 | 169042 | 0.000 |
Why?
|