Name | Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
---|
Phenylketonurias | 24 | 2023 | 129 | 6.840 |
Why?
|
Neonatal Screening | 20 | 2023 | 618 | 2.950 |
Why?
|
Phenylalanine | 10 | 2020 | 368 | 2.060 |
Why?
|
Phenylalanine Hydroxylase | 5 | 2022 | 28 | 1.900 |
Why?
|
Metabolism, Inborn Errors | 10 | 2023 | 292 | 1.690 |
Why?
|
Homocystinuria | 5 | 2023 | 65 | 1.630 |
Why?
|
Amino Acid Metabolism, Inborn Errors | 5 | 2021 | 284 | 1.430 |
Why?
|
Vitamin B 12 Deficiency | 2 | 2019 | 119 | 1.100 |
Why?
|
Phenylketonuria, Maternal | 6 | 2012 | 15 | 0.880 |
Why?
|
Lipid Metabolism, Inborn Errors | 2 | 2017 | 123 | 0.850 |
Why?
|
Carnitine | 4 | 2018 | 253 | 0.830 |
Why?
|
Propionic Acidemia | 2 | 2021 | 9 | 0.750 |
Why?
|
Vitamin B 12 | 2 | 2019 | 528 | 0.750 |
Why?
|
Maple Syrup Urine Disease | 2 | 2018 | 41 | 0.710 |
Why?
|
Caseins | 3 | 2018 | 105 | 0.690 |
Why?
|
Enzyme Replacement Therapy | 2 | 2018 | 80 | 0.680 |
Why?
|
Galactosemias | 4 | 2023 | 126 | 0.650 |
Why?
|
Phenylalanine Ammonia-Lyase | 1 | 2018 | 11 | 0.620 |
Why?
|
Urea Cycle Disorders, Inborn | 1 | 2018 | 32 | 0.600 |
Why?
|
Foods, Specialized | 1 | 2016 | 4 | 0.550 |
Why?
|
Glycine N-Methyltransferase | 1 | 2016 | 2 | 0.540 |
Why?
|
Food, Formulated | 1 | 2017 | 103 | 0.540 |
Why?
|
Methionine | 3 | 2016 | 573 | 0.540 |
Why?
|
Kynurenine | 1 | 2017 | 142 | 0.530 |
Why?
|
Infant, Newborn | 30 | 2023 | 26394 | 0.500 |
Why?
|
Brain Diseases, Metabolic, Inborn | 2 | 2013 | 46 | 0.490 |
Why?
|
Tryptophan | 1 | 2017 | 482 | 0.480 |
Why?
|
Medicine | 1 | 2022 | 947 | 0.460 |
Why?
|
Dietary Proteins | 2 | 2016 | 960 | 0.450 |
Why?
|
Amino Acids, Neutral | 1 | 2013 | 3 | 0.430 |
Why?
|
Metabolic Diseases | 2 | 2017 | 684 | 0.430 |
Why?
|
Acute Disease | 3 | 2018 | 7245 | 0.410 |
Why?
|
Tyrosine | 1 | 2017 | 1427 | 0.410 |
Why?
|
Mass Spectrometry | 6 | 2023 | 2204 | 0.390 |
Why?
|
Melatonin | 2 | 2017 | 670 | 0.380 |
Why?
|
Genotype | 5 | 2020 | 13048 | 0.370 |
Why?
|
Genetic Association Studies | 2 | 2020 | 2747 | 0.360 |
Why?
|
Genetic Techniques | 1 | 2013 | 428 | 0.360 |
Why?
|
Fatty Acids | 3 | 2018 | 1812 | 0.350 |
Why?
|
Acyl-CoA Dehydrogenase | 4 | 2017 | 57 | 0.340 |
Why?
|
Lysosomal Storage Diseases | 1 | 2010 | 81 | 0.330 |
Why?
|
Death, Sudden | 1 | 2010 | 301 | 0.300 |
Why?
|
Genetic Diseases, Inborn | 2 | 2010 | 606 | 0.300 |
Why?
|
Betaine | 2 | 2018 | 90 | 0.290 |
Why?
|
Peptide Fragments | 3 | 2018 | 5150 | 0.290 |
Why?
|
Diet | 2 | 2017 | 8090 | 0.290 |
Why?
|
Health Planning Guidelines | 1 | 2007 | 153 | 0.280 |
Why?
|
Physicians | 2 | 2022 | 4607 | 0.280 |
Why?
|
Leukodystrophy, Globoid Cell | 1 | 2005 | 38 | 0.250 |
Why?
|
Glutamate-Ammonia Ligase | 1 | 2005 | 76 | 0.250 |
Why?
|
Critical Care | 1 | 2018 | 2715 | 0.250 |
Why?
|
Amino Acids | 3 | 2022 | 1716 | 0.250 |
Why?
|
Glutamine | 2 | 2005 | 578 | 0.250 |
Why?
|
Rare Diseases | 1 | 2010 | 630 | 0.240 |
Why?
|
Phenotype | 5 | 2020 | 16735 | 0.230 |
Why?
|
High-Throughput Nucleotide Sequencing | 2 | 2023 | 3671 | 0.220 |
Why?
|
Sequence Analysis, DNA | 1 | 2014 | 4784 | 0.220 |
Why?
|
Disease Management | 4 | 2018 | 2537 | 0.210 |
Why?
|
Spinal Cord Diseases | 1 | 2006 | 293 | 0.210 |
Why?
|
Glutarates | 1 | 2004 | 243 | 0.210 |
Why?
|
Humans | 60 | 2023 | 768887 | 0.210 |
Why?
|
Homocysteine | 1 | 2006 | 637 | 0.210 |
Why?
|
Medication Adherence | 1 | 2014 | 2192 | 0.210 |
Why?
|
Intelligence | 3 | 2003 | 927 | 0.200 |
Why?
|
Acyl-CoA Dehydrogenases | 1 | 2002 | 24 | 0.200 |
Why?
|
Minisatellite Repeats | 1 | 2003 | 164 | 0.200 |
Why?
|
Cross-Over Studies | 3 | 2018 | 2108 | 0.200 |
Why?
|
Mutation | 8 | 2020 | 30266 | 0.190 |
Why?
|
Pregnancy Complications | 4 | 2014 | 2965 | 0.180 |
Why?
|
Dietary Supplements | 2 | 2018 | 3442 | 0.180 |
Why?
|
UTP-Hexose-1-Phosphate Uridylyltransferase | 2 | 2019 | 68 | 0.180 |
Why?
|
Infant, Newborn, Diseases | 2 | 2005 | 587 | 0.180 |
Why?
|
Hyperhomocysteinemia | 3 | 2006 | 118 | 0.170 |
Why?
|
Parents | 2 | 2004 | 3597 | 0.170 |
Why?
|
Acidosis | 1 | 2021 | 271 | 0.160 |
Why?
|
Infant | 12 | 2023 | 36541 | 0.160 |
Why?
|
Stress, Psychological | 2 | 2004 | 4542 | 0.150 |
Why?
|
Parenting | 1 | 2004 | 709 | 0.150 |
Why?
|
Ecosystem | 1 | 2022 | 494 | 0.150 |
Why?
|
Neurodegenerative Diseases | 2 | 2011 | 1094 | 0.150 |
Why?
|
Emergency Medicine | 2 | 2018 | 1223 | 0.150 |
Why?
|
Metabolomics | 2 | 2018 | 1675 | 0.150 |
Why?
|
Head | 1 | 2003 | 927 | 0.150 |
Why?
|
History, 20th Century | 4 | 2016 | 2771 | 0.140 |
Why?
|
Fatty Acids, Essential | 1 | 2018 | 97 | 0.140 |
Why?
|
Heart Defects, Congenital | 2 | 2012 | 4711 | 0.140 |
Why?
|
Genomics | 1 | 2013 | 5928 | 0.140 |
Why?
|
Germany | 1 | 2019 | 883 | 0.140 |
Why?
|
Prebiotics | 1 | 2017 | 41 | 0.140 |
Why?
|
Acyl-CoA Dehydrogenase, Long-Chain | 1 | 2017 | 49 | 0.140 |
Why?
|
Tandem Mass Spectrometry | 3 | 2019 | 1197 | 0.140 |
Why?
|
Hypogonadism | 1 | 2023 | 805 | 0.130 |
Why?
|
Biological Availability | 1 | 2017 | 392 | 0.130 |
Why?
|
Infertility | 1 | 2023 | 654 | 0.130 |
Why?
|
Catecholamines | 1 | 2017 | 390 | 0.130 |
Why?
|
Hyperammonemia | 1 | 2017 | 80 | 0.130 |
Why?
|
Female | 32 | 2023 | 397464 | 0.130 |
Why?
|
Male | 20 | 2022 | 365249 | 0.120 |
Why?
|
Amino Acid Substitution | 1 | 2019 | 1741 | 0.120 |
Why?
|
Enzyme Assays | 2 | 2019 | 103 | 0.120 |
Why?
|
Adolescent | 12 | 2021 | 89247 | 0.120 |
Why?
|
Hunger | 1 | 2016 | 207 | 0.120 |
Why?
|
Pregnancy | 12 | 2023 | 30175 | 0.110 |
Why?
|
Pancreatitis | 1 | 2021 | 1087 | 0.110 |
Why?
|
Child, Preschool | 8 | 2019 | 42684 | 0.110 |
Why?
|
Mitochondrial Diseases | 1 | 2017 | 344 | 0.100 |
Why?
|
Diet Therapy | 1 | 2014 | 150 | 0.100 |
Why?
|
Metabolic Networks and Pathways | 1 | 2017 | 800 | 0.100 |
Why?
|
Genetic Predisposition to Disease | 3 | 2020 | 18065 | 0.100 |
Why?
|
Polyethylene Glycols | 1 | 2018 | 1197 | 0.100 |
Why?
|
Child | 13 | 2021 | 80969 | 0.100 |
Why?
|
Erythrocytes | 2 | 2019 | 2421 | 0.100 |
Why?
|
Muscular Diseases | 1 | 2017 | 555 | 0.100 |
Why?
|
Serotonin | 1 | 2017 | 1045 | 0.100 |
Why?
|
Young Adult | 7 | 2019 | 60110 | 0.100 |
Why?
|
Early Diagnosis | 1 | 2017 | 1195 | 0.100 |
Why?
|
Child Development | 1 | 2003 | 2337 | 0.100 |
Why?
|
Gaucher Disease | 1 | 2012 | 110 | 0.100 |
Why?
|
Alleles | 2 | 2020 | 6901 | 0.100 |
Why?
|
Lactation | 1 | 2014 | 392 | 0.100 |
Why?
|
Glucosylceramidase | 1 | 2012 | 125 | 0.090 |
Why?
|
Homozygote | 2 | 2020 | 1779 | 0.090 |
Why?
|
Vitamins | 1 | 2019 | 1638 | 0.090 |
Why?
|
Telephone | 1 | 2014 | 630 | 0.090 |
Why?
|
Fatal Outcome | 2 | 2006 | 1836 | 0.090 |
Why?
|
Oxidation-Reduction | 1 | 2017 | 2226 | 0.090 |
Why?
|
False Positive Reactions | 2 | 2003 | 963 | 0.090 |
Why?
|
Analysis of Variance | 3 | 2016 | 6242 | 0.090 |
Why?
|
Multiple Sclerosis | 1 | 2005 | 3250 | 0.090 |
Why?
|
Monitoring, Physiologic | 1 | 2018 | 1796 | 0.090 |
Why?
|
History, 21st Century | 1 | 2016 | 1575 | 0.080 |
Why?
|
Adult | 14 | 2021 | 223818 | 0.080 |
Why?
|
Cost-Benefit Analysis | 3 | 2010 | 5544 | 0.080 |
Why?
|
Expert Testimony | 1 | 2010 | 266 | 0.080 |
Why?
|
Practice Guidelines as Topic | 2 | 2018 | 7460 | 0.080 |
Why?
|
Cholesterol | 1 | 2018 | 2913 | 0.080 |
Why?
|
Polymorphism, Single Nucleotide | 2 | 2007 | 16051 | 0.080 |
Why?
|
Gastrointestinal Diseases | 1 | 2016 | 1206 | 0.070 |
Why?
|
Transition Temperature | 1 | 2007 | 33 | 0.070 |
Why?
|
Nucleic Acid Denaturation | 1 | 2007 | 111 | 0.070 |
Why?
|
Immunoassay | 1 | 2010 | 746 | 0.070 |
Why?
|
Hydroxocobalamin | 1 | 2006 | 27 | 0.070 |
Why?
|
Public Health | 1 | 2019 | 2680 | 0.070 |
Why?
|
Embryonic and Fetal Development | 2 | 2003 | 420 | 0.070 |
Why?
|
Middle Aged | 8 | 2019 | 223740 | 0.060 |
Why?
|
Median Nerve | 1 | 2006 | 133 | 0.060 |
Why?
|
Data Collection | 1 | 2014 | 3322 | 0.060 |
Why?
|
Referral and Consultation | 1 | 2018 | 3626 | 0.060 |
Why?
|
Cardiomyopathies | 1 | 2017 | 2057 | 0.060 |
Why?
|
Pericardial Effusion | 1 | 2006 | 246 | 0.060 |
Why?
|
Feeding Behavior | 1 | 2016 | 3206 | 0.060 |
Why?
|
Hyperglycinemia, Nonketotic | 1 | 2003 | 2 | 0.060 |
Why?
|
Hydroxymethyl and Formyl Transferases | 1 | 2003 | 18 | 0.060 |
Why?
|
Boston | 1 | 2017 | 9375 | 0.060 |
Why?
|
Patient Satisfaction | 1 | 2016 | 3489 | 0.050 |
Why?
|
Anxiety | 1 | 2019 | 4677 | 0.050 |
Why?
|
Hyperargininemia | 1 | 2003 | 12 | 0.050 |
Why?
|
Methylation | 1 | 2006 | 1078 | 0.050 |
Why?
|
Treatment Outcome | 4 | 2019 | 65485 | 0.050 |
Why?
|
Controlled Clinical Trials as Topic | 1 | 2003 | 187 | 0.050 |
Why?
|
Infant Food | 1 | 2003 | 139 | 0.050 |
Why?
|
Pedigree | 2 | 2012 | 4545 | 0.050 |
Why?
|
Intelligence Tests | 1 | 2003 | 505 | 0.050 |
Why?
|
Evidence-Based Medicine | 2 | 2014 | 3709 | 0.050 |
Why?
|
Food, Fortified | 1 | 2003 | 189 | 0.050 |
Why?
|
Brain Edema | 2 | 2003 | 607 | 0.050 |
Why?
|
United States | 4 | 2019 | 73180 | 0.050 |
Why?
|
Biomedical Research | 1 | 2016 | 3463 | 0.040 |
Why?
|
Fetal Diseases | 1 | 2006 | 916 | 0.040 |
Why?
|
Reference Values | 2 | 2006 | 4941 | 0.040 |
Why?
|
Glutamic Acid | 1 | 2005 | 1193 | 0.040 |
Why?
|
Molecular Biology | 1 | 2023 | 573 | 0.040 |
Why?
|
Microcephaly | 1 | 2003 | 426 | 0.040 |
Why?
|
Fetal Growth Retardation | 1 | 2003 | 590 | 0.040 |
Why?
|
Predictive Value of Tests | 2 | 2006 | 15471 | 0.040 |
Why?
|
Fatty Liver | 1 | 2006 | 810 | 0.040 |
Why?
|
Depression | 1 | 2019 | 8240 | 0.040 |
Why?
|
Mental Disorders | 1 | 2019 | 6879 | 0.040 |
Why?
|
Republic of Korea | 1 | 2021 | 592 | 0.040 |
Why?
|
Birth Weight | 2 | 2003 | 2108 | 0.040 |
Why?
|
Multicenter Studies as Topic | 1 | 2003 | 1737 | 0.040 |
Why?
|
Ovary | 1 | 2023 | 965 | 0.040 |
Why?
|
Diagnostic Errors | 1 | 2006 | 1281 | 0.040 |
Why?
|
Follow-Up Studies | 3 | 2010 | 39394 | 0.040 |
Why?
|
Fertility | 1 | 2023 | 770 | 0.040 |
Why?
|
Spinal Cord | 1 | 2006 | 1813 | 0.040 |
Why?
|
Pregnancy Outcome | 2 | 2006 | 2957 | 0.040 |
Why?
|
Galactose | 1 | 2019 | 300 | 0.040 |
Why?
|
Body Height | 1 | 2003 | 1568 | 0.040 |
Why?
|
Algorithms | 1 | 2018 | 14199 | 0.030 |
Why?
|
Methylamines | 1 | 2018 | 136 | 0.030 |
Why?
|
Quality Assurance, Health Care | 1 | 2006 | 2181 | 0.030 |
Why?
|
Incidence | 1 | 2013 | 21545 | 0.030 |
Why?
|
Developmental Disabilities | 1 | 2003 | 1521 | 0.030 |
Why?
|
Attitude to Health | 1 | 2003 | 2025 | 0.030 |
Why?
|
Social Support | 1 | 2004 | 2193 | 0.030 |
Why?
|
Genetic Counseling | 1 | 2018 | 634 | 0.030 |
Why?
|
Forecasting | 1 | 2003 | 2946 | 0.030 |
Why?
|
Pancreas | 1 | 2021 | 1700 | 0.030 |
Why?
|
Europe | 1 | 2020 | 3441 | 0.030 |
Why?
|
Gene Frequency | 1 | 2020 | 3625 | 0.030 |
Why?
|
Double-Blind Method | 1 | 2007 | 12469 | 0.030 |
Why?
|
Nutritional Requirements | 1 | 2014 | 279 | 0.030 |
Why?
|
Hematopoietic Stem Cell Transplantation | 1 | 2010 | 5716 | 0.020 |
Why?
|
Fasting | 1 | 2018 | 1610 | 0.020 |
Why?
|
Amino Acids, Branched-Chain | 1 | 2014 | 268 | 0.020 |
Why?
|
Muscle, Skeletal | 1 | 2006 | 4980 | 0.020 |
Why?
|
Severity of Illness Index | 2 | 2006 | 15955 | 0.020 |
Why?
|
Health Status | 1 | 2003 | 4095 | 0.020 |
Why?
|
National Institutes of Health (U.S.) | 1 | 2014 | 794 | 0.020 |
Why?
|
Animals | 3 | 2023 | 169408 | 0.020 |
Why?
|
Case-Control Studies | 2 | 2006 | 22294 | 0.020 |
Why?
|
Lipid Metabolism | 1 | 2018 | 1904 | 0.020 |
Why?
|
Parenteral Nutrition | 1 | 2014 | 663 | 0.020 |
Why?
|
Brain | 2 | 2006 | 27476 | 0.020 |
Why?
|
Research Design | 1 | 2003 | 6213 | 0.020 |
Why?
|
Family | 1 | 2018 | 3208 | 0.020 |
Why?
|
Organic Cation Transport Proteins | 1 | 2006 | 61 | 0.020 |
Why?
|
Energy Intake | 1 | 2014 | 2146 | 0.020 |
Why?
|
HELLP Syndrome | 1 | 2006 | 40 | 0.020 |
Why?
|
Prenatal Care | 2 | 2003 | 1159 | 0.020 |
Why?
|
Heterozygote | 1 | 2012 | 2798 | 0.020 |
Why?
|
Health Care Costs | 1 | 2018 | 3270 | 0.020 |
Why?
|
Aminomethyltransferase | 1 | 2003 | 1 | 0.010 |
Why?
|
Germ-Line Mutation | 1 | 2012 | 1887 | 0.010 |
Why?
|
Hospitalization | 1 | 2003 | 10845 | 0.010 |
Why?
|
Amino Acids, Basic | 1 | 2003 | 9 | 0.010 |
Why?
|
Maternal-Fetal Exchange | 1 | 2006 | 456 | 0.010 |
Why?
|
Sensitivity and Specificity | 1 | 2019 | 14751 | 0.010 |
Why?
|
Maternal Age | 1 | 2006 | 804 | 0.010 |
Why?
|
Arginase | 1 | 2003 | 81 | 0.010 |
Why?
|
Tomography, X-Ray Computed | 1 | 2005 | 20776 | 0.010 |
Why?
|
Retrospective Studies | 3 | 2019 | 81892 | 0.010 |
Why?
|
Ammonia | 1 | 2003 | 248 | 0.010 |
Why?
|
Risk Assessment | 2 | 2018 | 24330 | 0.010 |
Why?
|
Magnetic Resonance Imaging | 2 | 2005 | 36861 | 0.010 |
Why?
|
Probability | 1 | 2006 | 2483 | 0.010 |
Why?
|
Infant Nutritional Physiological Phenomena | 1 | 2003 | 352 | 0.010 |
Why?
|
Confidence Intervals | 1 | 2006 | 2931 | 0.010 |
Why?
|
Glycine | 1 | 2003 | 672 | 0.010 |
Why?
|
Disease Models, Animal | 1 | 2019 | 18366 | 0.010 |
Why?
|
Arginine | 1 | 2003 | 932 | 0.010 |
Why?
|
Prospective Studies | 1 | 2003 | 54950 | 0.010 |
Why?
|
Risk Factors | 1 | 2006 | 74971 | 0.010 |
Why?
|
Molecular Diagnostic Techniques | 1 | 2003 | 620 | 0.010 |
Why?
|
Statistics, Nonparametric | 1 | 2003 | 2862 | 0.010 |
Why?
|
Herpesvirus 4, Human | 1 | 2003 | 1082 | 0.010 |
Why?
|
Liver | 2 | 2003 | 7579 | 0.010 |
Why?
|
Gestational Age | 1 | 2006 | 3610 | 0.010 |
Why?
|
Prenatal Diagnosis | 1 | 2003 | 1274 | 0.010 |
Why?
|
Mice | 1 | 2023 | 82074 | 0.010 |
Why?
|
Lymphocytes | 1 | 2003 | 2614 | 0.010 |
Why?
|
Regression Analysis | 1 | 2003 | 6346 | 0.010 |
Why?
|
Disease Progression | 1 | 2011 | 13677 | 0.010 |
Why?
|
Odds Ratio | 1 | 2006 | 9682 | 0.010 |
Why?
|
Renal Dialysis | 1 | 2003 | 1789 | 0.010 |
Why?
|
Polymorphism, Genetic | 1 | 2003 | 4251 | 0.010 |
Why?
|
Base Sequence | 1 | 2003 | 12430 | 0.010 |
Why?
|
Molecular Sequence Data | 1 | 2003 | 17629 | 0.010 |
Why?
|
Logistic Models | 1 | 2003 | 13317 | 0.000 |
Why?
|
Kidney | 1 | 2003 | 7057 | 0.000 |
Why?
|
Cognition | 1 | 2003 | 7080 | 0.000 |
Why?
|
Aged | 1 | 2019 | 171790 | 0.000 |
Why?
|