Deborah L. Marsden, M.B.,B.S.
Concepts are derived automatically from a person's publications.
Concepts are listed by decreasing relevance which is based on many factors, including how many publications the person wrote about that topic, how long ago those publications were written, and how many publications other people have written on that same topic.
| Name | Number of Publications
|
Most Recent Publication
|
Publications by All Authors
|
Concept Score
|
Why?
|
|---|
| Lipid Metabolism, Inborn Errors | 10 | 2024 | 120 | 3.330 |
Why?
|
| Neonatal Screening | 15 | 2021 | 595 | 1.820 |
Why?
|
| Metabolism, Inborn Errors | 13 | 2009 | 285 | 1.490 |
Why?
|
| Enzyme Replacement Therapy | 5 | 2022 | 79 | 1.300 |
Why?
|
| Mucopolysaccharidosis VII | 3 | 2024 | 3 | 1.240 |
Why?
|
| Glycosaminoglycans | 5 | 2024 | 605 | 1.050 |
Why?
|
| Acyl-CoA Dehydrogenase, Long-Chain | 5 | 2021 | 49 | 0.970 |
Why?
|
| Mucopolysaccharidoses | 1 | 2020 | 27 | 0.700 |
Why?
|
| Fatty Acids | 9 | 2024 | 1804 | 0.680 |
Why?
|
| Lysosomal Storage Diseases | 3 | 2016 | 79 | 0.550 |
Why?
|
| Oxidation-Reduction | 7 | 2024 | 2222 | 0.460 |
Why?
|
| Triglycerides | 4 | 2024 | 2476 | 0.410 |
Why?
|
| Cardiomyopathies | 4 | 2024 | 1951 | 0.400 |
Why?
|
| Glucuronidase | 3 | 2024 | 202 | 0.380 |
Why?
|
| Carnitine | 6 | 2008 | 251 | 0.330 |
Why?
|
| Glycogen Storage Disease Type II | 2 | 2006 | 43 | 0.310 |
Why?
|
| Adrenal Hyperplasia, Congenital | 2 | 2009 | 104 | 0.290 |
Why?
|
| Infant, Newborn | 24 | 2022 | 26179 | 0.290 |
Why?
|
| Phenylketonurias | 2 | 2005 | 123 | 0.280 |
Why?
|
| Chromosomes, Human, X | 2 | 2006 | 321 | 0.270 |
Why?
|
| Hepatomegaly | 2 | 2024 | 84 | 0.260 |
Why?
|
| Splenomegaly | 2 | 2024 | 189 | 0.240 |
Why?
|
| Acyl-CoA Dehydrogenases | 2 | 2007 | 24 | 0.210 |
Why?
|
| Membrane Transport Proteins | 2 | 2006 | 1035 | 0.210 |
Why?
|
| Rare Diseases | 3 | 2024 | 619 | 0.210 |
Why?
|
| Spectrometry, Mass, Electrospray Ionization | 2 | 2003 | 267 | 0.200 |
Why?
|
| Amino Acid Metabolism, Inborn Errors | 4 | 2009 | 282 | 0.200 |
Why?
|
| Growth Hormone | 2 | 1994 | 568 | 0.200 |
Why?
|
| 3-Hydroxyacyl CoA Dehydrogenases | 1 | 2001 | 59 | 0.200 |
Why?
|
| Multienzyme Complexes | 1 | 2005 | 666 | 0.190 |
Why?
|
| Hydrolases | 1 | 2022 | 146 | 0.190 |
Why?
|
| Mass Spectrometry | 7 | 2006 | 2192 | 0.190 |
Why?
|
| Mucopolysaccharidosis VI | 1 | 2020 | 4 | 0.180 |
Why?
|
| N-Acetylgalactosamine-4-Sulfatase | 1 | 2020 | 3 | 0.180 |
Why?
|
| Mucopolysaccharidosis II | 1 | 2020 | 26 | 0.180 |
Why?
|
| Mucopolysaccharidosis I | 1 | 2020 | 52 | 0.170 |
Why?
|
| Creatine Kinase | 1 | 2001 | 691 | 0.170 |
Why?
|
| Infant | 15 | 2024 | 36053 | 0.150 |
Why?
|
| Glycine | 1 | 2001 | 662 | 0.150 |
Why?
|
| Ornithine Carbamoyltransferase Deficiency Disease | 2 | 1994 | 23 | 0.140 |
Why?
|
| Fatty Acid Desaturases | 2 | 1992 | 102 | 0.130 |
Why?
|
| Acyl-CoA Dehydrogenase | 2 | 2008 | 57 | 0.130 |
Why?
|
| Uric Acid | 1 | 2001 | 807 | 0.130 |
Why?
|
| Rhabdomyolysis | 3 | 2024 | 155 | 0.120 |
Why?
|
| Heterozygote | 1 | 2001 | 2798 | 0.120 |
Why?
|
| Child, Preschool | 16 | 2024 | 42056 | 0.120 |
Why?
|
| Humans | 48 | 2024 | 760613 | 0.110 |
Why?
|
| Hypoparathyroidism | 1 | 1994 | 136 | 0.110 |
Why?
|
| Child | 20 | 2024 | 79799 | 0.100 |
Why?
|
| Abnormalities, Multiple | 3 | 2001 | 1415 | 0.100 |
Why?
|
| Brain Diseases, Metabolic | 1 | 1992 | 44 | 0.100 |
Why?
|
| Acidosis | 1 | 1992 | 268 | 0.090 |
Why?
|
| Hematopoietic Stem Cell Transplantation | 2 | 2024 | 5659 | 0.090 |
Why?
|
| Oxygen | 3 | 2006 | 4193 | 0.080 |
Why?
|
| Pediatrics | 1 | 2005 | 3586 | 0.080 |
Why?
|
| Methylmalonic Acid | 2 | 2005 | 49 | 0.080 |
Why?
|
| Enzyme Assays | 1 | 2010 | 107 | 0.080 |
Why?
|
| Critical Illness | 1 | 2022 | 2709 | 0.080 |
Why?
|
| Ventricular Function, Left | 1 | 2022 | 3880 | 0.080 |
Why?
|
| Plasma Membrane Neurotransmitter Transport Proteins | 2 | 2006 | 22 | 0.080 |
Why?
|
| Paper | 1 | 2009 | 85 | 0.080 |
Why?
|
| Glucosephosphate Dehydrogenase Deficiency | 1 | 2009 | 94 | 0.080 |
Why?
|
| Hypoglycemia | 3 | 2024 | 888 | 0.080 |
Why?
|
| Hemoglobinopathies | 1 | 2009 | 96 | 0.080 |
Why?
|
| Stroke Volume | 1 | 2022 | 5523 | 0.080 |
Why?
|
| Language Development Disorders | 1 | 1989 | 192 | 0.070 |
Why?
|
| Blood Chemical Analysis | 1 | 2009 | 437 | 0.070 |
Why?
|
| Immunoassay | 1 | 2010 | 746 | 0.070 |
Why?
|
| Oxidoreductases Acting on CH-CH Group Donors | 1 | 2007 | 174 | 0.060 |
Why?
|
| Muscle Hypotonia | 2 | 2005 | 160 | 0.060 |
Why?
|
| Homocystinuria | 1 | 2005 | 64 | 0.060 |
Why?
|
| Delphi Technique | 1 | 2008 | 829 | 0.060 |
Why?
|
| Respiratory Therapy | 1 | 1985 | 127 | 0.060 |
Why?
|
| Prevalence | 1 | 2022 | 15686 | 0.060 |
Why?
|
| Carbon Dioxide | 2 | 1986 | 1146 | 0.060 |
Why?
|
| Survivors | 1 | 2015 | 2375 | 0.060 |
Why?
|
| Vitamin B 12 Deficiency | 1 | 2005 | 119 | 0.060 |
Why?
|
| False Positive Reactions | 2 | 2003 | 956 | 0.060 |
Why?
|
| Macula Lutea | 1 | 2005 | 169 | 0.060 |
Why?
|
| Propionates | 2 | 1995 | 182 | 0.060 |
Why?
|
| Genetic Diseases, Inborn | 1 | 2009 | 601 | 0.060 |
Why?
|
| Tandem Mass Spectrometry | 1 | 2010 | 1189 | 0.060 |
Why?
|
| Hypothyroidism | 1 | 2009 | 665 | 0.060 |
Why?
|
| Galactosemias | 1 | 2004 | 124 | 0.060 |
Why?
|
| Hyperargininemia | 1 | 2003 | 12 | 0.050 |
Why?
|
| Electronic Mail | 1 | 2005 | 213 | 0.050 |
Why?
|
| Glutarates | 1 | 2004 | 244 | 0.050 |
Why?
|
| Clinical Protocols | 1 | 2008 | 1440 | 0.050 |
Why?
|
| Patient Care Management | 1 | 2006 | 303 | 0.050 |
Why?
|
| New England | 2 | 2003 | 1050 | 0.050 |
Why?
|
| Incidence | 1 | 2021 | 21391 | 0.050 |
Why?
|
| False Negative Reactions | 1 | 2003 | 573 | 0.050 |
Why?
|
| Massachusetts | 3 | 2005 | 8803 | 0.050 |
Why?
|
| Retrospective Studies | 5 | 2022 | 80345 | 0.050 |
Why?
|
| Cardiomegaly | 1 | 2005 | 593 | 0.050 |
Why?
|
| Muscle Weakness | 1 | 2005 | 413 | 0.050 |
Why?
|
| Eye | 1 | 2006 | 710 | 0.050 |
Why?
|
| Oxygen Inhalation Therapy | 1 | 2005 | 404 | 0.050 |
Why?
|
| Nerve Tissue Proteins | 2 | 2006 | 4408 | 0.050 |
Why?
|
| Carboxylic Acids | 1 | 2001 | 90 | 0.050 |
Why?
|
| Epidemiologic Studies | 1 | 2005 | 670 | 0.050 |
Why?
|
| Monitoring, Physiologic | 2 | 1986 | 1784 | 0.050 |
Why?
|
| Carnitine O-Palmitoyltransferase | 1 | 2001 | 83 | 0.050 |
Why?
|
| Retinal Degeneration | 1 | 2005 | 412 | 0.050 |
Why?
|
| Education, Distance | 1 | 2005 | 258 | 0.050 |
Why?
|
| Medical History Taking | 1 | 2005 | 773 | 0.050 |
Why?
|
| Dicarboxylic Acids | 1 | 2001 | 77 | 0.050 |
Why?
|
| Male | 20 | 2024 | 359718 | 0.050 |
Why?
|
| Caprylates | 1 | 2001 | 113 | 0.050 |
Why?
|
| Female | 23 | 2024 | 391246 | 0.040 |
Why?
|
| Adolescent | 11 | 2024 | 87809 | 0.040 |
Why?
|
| Parents | 2 | 2004 | 3549 | 0.040 |
Why?
|
| Chromosomes, Human, Pair 2 | 1 | 2001 | 313 | 0.040 |
Why?
|
| Glutamine | 1 | 2003 | 576 | 0.040 |
Why?
|
| Trisomy | 1 | 2001 | 260 | 0.040 |
Why?
|
| Age of Onset | 2 | 2005 | 3302 | 0.040 |
Why?
|
| Cystic Fibrosis | 1 | 2009 | 1274 | 0.040 |
Why?
|
| Education, Medical, Continuing | 1 | 2005 | 830 | 0.040 |
Why?
|
| Chromosomes, Human, Pair 9 | 1 | 2001 | 534 | 0.040 |
Why?
|
| Cost-Benefit Analysis | 2 | 2016 | 5508 | 0.040 |
Why?
|
| Steroids | 1 | 2004 | 928 | 0.040 |
Why?
|
| Stress, Psychological | 2 | 2004 | 4446 | 0.040 |
Why?
|
| Brain Edema | 1 | 2003 | 603 | 0.040 |
Why?
|
| Parenting | 1 | 2004 | 695 | 0.040 |
Why?
|
| Gene Deletion | 1 | 2006 | 2668 | 0.040 |
Why?
|
| Disease Management | 1 | 2008 | 2514 | 0.040 |
Why?
|
| Ammonia | 2 | 2003 | 236 | 0.040 |
Why?
|
| Health Resources | 1 | 2024 | 935 | 0.040 |
Why?
|
| Genetic Linkage | 1 | 2003 | 2381 | 0.040 |
Why?
|
| MELAS Syndrome | 1 | 1997 | 56 | 0.040 |
Why?
|
| Chromosome Deletion | 1 | 2001 | 1387 | 0.030 |
Why?
|
| Treatment Outcome | 2 | 2020 | 64981 | 0.030 |
Why?
|
| Critical Care | 2 | 1986 | 2699 | 0.030 |
Why?
|
| Algorithms | 3 | 2007 | 13982 | 0.030 |
Why?
|
| Magnetic Resonance Spectroscopy | 1 | 2006 | 3765 | 0.030 |
Why?
|
| Data Collection | 1 | 2005 | 3315 | 0.030 |
Why?
|
| Phosphorylation | 1 | 2006 | 8311 | 0.030 |
Why?
|
| Isoleucine | 1 | 1994 | 110 | 0.030 |
Why?
|
| Chromosome Aberrations | 1 | 2001 | 1767 | 0.030 |
Why?
|
| 3-Hydroxybutyric Acid | 1 | 1994 | 74 | 0.030 |
Why?
|
| Hydroxybutyrates | 1 | 1994 | 79 | 0.030 |
Why?
|
| Age Determination by Skeleton | 1 | 1994 | 126 | 0.030 |
Why?
|
| Cross-Over Studies | 1 | 2020 | 2061 | 0.030 |
Why?
|
| Genetic Testing | 1 | 2007 | 3531 | 0.030 |
Why?
|
| Sensitivity and Specificity | 1 | 2009 | 14661 | 0.030 |
Why?
|
| Blood-Brain Barrier | 1 | 2020 | 1019 | 0.030 |
Why?
|
| Nitrogen | 1 | 1994 | 350 | 0.030 |
Why?
|
| Mutation | 3 | 2005 | 29957 | 0.030 |
Why?
|
| DNA Mutational Analysis | 1 | 2001 | 4108 | 0.030 |
Why?
|
| Consanguinity | 1 | 1994 | 456 | 0.030 |
Why?
|
| Growth | 1 | 1994 | 365 | 0.030 |
Why?
|
| Ketone Bodies | 1 | 1992 | 76 | 0.030 |
Why?
|
| Predictive Value of Tests | 2 | 2006 | 15286 | 0.030 |
Why?
|
| Gas Chromatography-Mass Spectrometry | 1 | 1992 | 352 | 0.020 |
Why?
|
| Child Development | 1 | 2003 | 2285 | 0.020 |
Why?
|
| Genes, Recessive | 1 | 1994 | 626 | 0.020 |
Why?
|
| Basal Ganglia | 1 | 1995 | 552 | 0.020 |
Why?
|
| Physician-Patient Relations | 1 | 2005 | 3242 | 0.020 |
Why?
|
| Practice Guidelines as Topic | 1 | 2008 | 7475 | 0.020 |
Why?
|
| Attitude of Health Personnel | 1 | 2005 | 3865 | 0.020 |
Why?
|
| Communication | 1 | 2005 | 3849 | 0.020 |
Why?
|
| Fetal Growth Retardation | 1 | 1994 | 579 | 0.020 |
Why?
|
| Adult | 10 | 2024 | 220007 | 0.020 |
Why?
|
| Genotype | 1 | 2005 | 12957 | 0.020 |
Why?
|
| Antibodies, Neutralizing | 1 | 2020 | 1933 | 0.020 |
Why?
|
| Cerebral Infarction | 1 | 1995 | 982 | 0.020 |
Why?
|
| Dietary Proteins | 1 | 1994 | 949 | 0.020 |
Why?
|
| Maple Syrup Urine Disease | 1 | 1989 | 40 | 0.020 |
Why?
|
| Young Adult | 3 | 2024 | 58748 | 0.020 |
Why?
|
| Language Tests | 1 | 1989 | 190 | 0.020 |
Why?
|
| Polymerase Chain Reaction | 1 | 1997 | 6065 | 0.020 |
Why?
|
| Syndrome | 1 | 1994 | 3280 | 0.020 |
Why?
|
| Phenotype | 1 | 2006 | 16548 | 0.020 |
Why?
|
| Disease Progression | 1 | 2005 | 13505 | 0.020 |
Why?
|
| Animals | 1 | 2020 | 167960 | 0.020 |
Why?
|
| Infant Formula | 1 | 2008 | 193 | 0.020 |
Why?
|
| Insulin-Like Growth Factor I | 1 | 1994 | 1928 | 0.020 |
Why?
|
| Cobamides | 1 | 2005 | 12 | 0.020 |
Why?
|
| Partial Pressure | 1 | 1985 | 245 | 0.020 |
Why?
|
| Hydroxocobalamin | 1 | 2005 | 27 | 0.020 |
Why?
|
| Asphyxia Neonatorum | 1 | 1986 | 111 | 0.020 |
Why?
|
| Betaine | 1 | 2005 | 89 | 0.020 |
Why?
|
| Osteochondrodysplasias | 1 | 1986 | 182 | 0.020 |
Why?
|
| Recombinant Proteins | 1 | 1994 | 6538 | 0.010 |
Why?
|
| Pregnancy | 2 | 2024 | 29746 | 0.010 |
Why?
|
| Amino Acids, Basic | 1 | 2003 | 9 | 0.010 |
Why?
|
| Thorax | 1 | 1986 | 553 | 0.010 |
Why?
|
| Time Factors | 1 | 2005 | 40139 | 0.010 |
Why?
|
| Methionine | 1 | 2005 | 569 | 0.010 |
Why?
|
| Middle Aged | 4 | 2024 | 220359 | 0.010 |
Why?
|
| Respiration Disorders | 1 | 2006 | 368 | 0.010 |
Why?
|
| Arginase | 1 | 2003 | 80 | 0.010 |
Why?
|
| Point Mutation | 1 | 2008 | 1594 | 0.010 |
Why?
|
| Diabetes Mellitus, Type 1 | 1 | 1997 | 3454 | 0.010 |
Why?
|
| Microscopy, Electron | 2 | 1997 | 2558 | 0.010 |
Why?
|
| Genetic Counseling | 1 | 2006 | 624 | 0.010 |
Why?
|
| Homocysteine | 1 | 2005 | 640 | 0.010 |
Why?
|
| Vision, Ocular | 1 | 2005 | 454 | 0.010 |
Why?
|
| Pelvis | 1 | 1986 | 743 | 0.010 |
Why?
|
| Larynx | 1 | 1986 | 492 | 0.010 |
Why?
|
| Prospective Studies | 2 | 2003 | 54306 | 0.010 |
Why?
|
| Chromosome Painting | 1 | 2001 | 26 | 0.010 |
Why?
|
| Chorionic Villi Sampling | 1 | 2001 | 35 | 0.010 |
Why?
|
| Lymphangioma, Cystic | 1 | 2001 | 34 | 0.010 |
Why?
|
| Chromosome Banding | 1 | 2001 | 260 | 0.010 |
Why?
|
| Bone Density | 1 | 1994 | 3534 | 0.010 |
Why?
|
| Creatine | 1 | 2003 | 426 | 0.010 |
Why?
|
| Psychomotor Performance | 1 | 1989 | 1878 | 0.010 |
Why?
|
| Blood Specimen Collection | 1 | 2001 | 238 | 0.010 |
Why?
|
| Musculoskeletal Diseases | 1 | 2006 | 595 | 0.010 |
Why?
|
| Breast Feeding | 1 | 2008 | 1355 | 0.010 |
Why?
|
| United States | 2 | 2024 | 72448 | 0.010 |
Why?
|
| Prognosis | 1 | 2020 | 29661 | 0.010 |
Why?
|
| Arginine | 1 | 2003 | 934 | 0.010 |
Why?
|
| Karyotyping | 1 | 2001 | 1172 | 0.010 |
Why?
|
| Prenatal Diagnosis | 1 | 2006 | 1264 | 0.010 |
Why?
|
| Follow-Up Studies | 1 | 2020 | 39262 | 0.010 |
Why?
|
| Chromosome Disorders | 1 | 2001 | 499 | 0.010 |
Why?
|
| Biological Transport | 1 | 2003 | 2086 | 0.010 |
Why?
|
| Ethidium | 1 | 1997 | 27 | 0.010 |
Why?
|
| Phosphorus Radioisotopes | 1 | 1997 | 100 | 0.010 |
Why?
|
| Blood Glucose | 1 | 1992 | 6379 | 0.010 |
Why?
|
| Gastrointestinal Diseases | 1 | 2006 | 1189 | 0.010 |
Why?
|
| Sequence Analysis, DNA | 1 | 2008 | 4716 | 0.010 |
Why?
|
| Electron Transport | 1 | 1997 | 206 | 0.010 |
Why?
|
| Autoradiography | 1 | 1997 | 730 | 0.010 |
Why?
|
| Mitochondria, Muscle | 1 | 1997 | 172 | 0.010 |
Why?
|
| Neuropsychological Tests | 1 | 1989 | 7022 | 0.010 |
Why?
|
| Visual Acuity | 1 | 2005 | 2643 | 0.010 |
Why?
|
| In Situ Hybridization, Fluorescence | 1 | 2001 | 2505 | 0.010 |
Why?
|
| Developmental Disabilities | 1 | 2003 | 1504 | 0.010 |
Why?
|
| General Surgery | 1 | 2006 | 1678 | 0.010 |
Why?
|
| Attitude to Health | 1 | 2003 | 2029 | 0.010 |
Why?
|
| Social Support | 1 | 2004 | 2145 | 0.010 |
Why?
|
| Retina | 1 | 2005 | 2635 | 0.010 |
Why?
|
| Putamen | 1 | 1995 | 291 | 0.010 |
Why?
|
| Globus Pallidus | 1 | 1995 | 249 | 0.010 |
Why?
|
| Renal Dialysis | 1 | 2003 | 1801 | 0.010 |
Why?
|
| Liver | 2 | 2003 | 7510 | 0.010 |
Why?
|
| Caudate Nucleus | 1 | 1995 | 389 | 0.010 |
Why?
|
| Mitochondria, Liver | 1 | 1994 | 190 | 0.010 |
Why?
|
| Aphasia | 1 | 1995 | 192 | 0.010 |
Why?
|
| Heart Diseases | 1 | 2006 | 2809 | 0.010 |
Why?
|
| Ultrasonography, Prenatal | 1 | 2001 | 1745 | 0.010 |
Why?
|
| Muscles | 1 | 1997 | 1581 | 0.010 |
Why?
|
| Cohort Studies | 1 | 2015 | 41337 | 0.010 |
Why?
|
| Gestational Age | 1 | 2001 | 3564 | 0.010 |
Why?
|
| DNA, Mitochondrial | 1 | 1997 | 858 | 0.010 |
Why?
|
| Diagnosis, Differential | 1 | 2007 | 12968 | 0.010 |
Why?
|
| Health Status | 1 | 2003 | 4082 | 0.010 |
Why?
|
| Necrosis | 1 | 1995 | 1612 | 0.010 |
Why?
|
| Fatal Outcome | 1 | 1995 | 1832 | 0.010 |
Why?
|
| Fluorescent Dyes | 1 | 1997 | 1913 | 0.010 |
Why?
|
| Age Factors | 1 | 1985 | 18413 | 0.000 |
Why?
|
| Kidney | 1 | 2003 | 7064 | 0.000 |
Why?
|
| Electrodes | 1 | 1986 | 614 | 0.000 |
Why?
|
| Hospitalization | 1 | 2003 | 10789 | 0.000 |
Why?
|
| Biopsy | 1 | 1994 | 6771 | 0.000 |
Why?
|
| Temperature | 1 | 1986 | 2221 | 0.000 |
Why?
|
| Pedigree | 1 | 1986 | 4578 | 0.000 |
Why?
|
| Skin | 1 | 1986 | 4466 | 0.000 |
Why?
|
| Tomography, X-Ray Computed | 1 | 1995 | 20509 | 0.000 |
Why?
|
| Magnetic Resonance Imaging | 1 | 1995 | 36286 | 0.000 |
Why?
|