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 | 11 | 2024 | 122 | 4.130 |
Why?
|
| Neonatal Screening | 15 | 2021 | 619 | 1.740 |
Why?
|
| Metabolism, Inborn Errors | 13 | 2009 | 291 | 1.460 |
Why?
|
| Enzyme Replacement Therapy | 5 | 2022 | 80 | 1.270 |
Why?
|
| Mucopolysaccharidosis VII | 3 | 2024 | 3 | 1.210 |
Why?
|
| Glycosaminoglycans | 5 | 2024 | 606 | 1.030 |
Why?
|
| Acyl-CoA Dehydrogenase, Long-Chain | 5 | 2021 | 49 | 0.950 |
Why?
|
| Fatty Acids | 10 | 2024 | 1806 | 0.800 |
Why?
|
| Mucopolysaccharidoses | 1 | 2020 | 27 | 0.680 |
Why?
|
| Lysosomal Storage Diseases | 3 | 2016 | 80 | 0.530 |
Why?
|
| Oxidation-Reduction | 7 | 2024 | 2223 | 0.450 |
Why?
|
| Triglycerides | 4 | 2024 | 2441 | 0.400 |
Why?
|
| Cardiomyopathies | 4 | 2024 | 2061 | 0.380 |
Why?
|
| Glucuronidase | 3 | 2024 | 205 | 0.380 |
Why?
|
| Health Care Costs | 1 | 2024 | 3240 | 0.370 |
Why?
|
| Infant, Newborn | 25 | 2024 | 26379 | 0.340 |
Why?
|
| Carnitine | 6 | 2008 | 253 | 0.320 |
Why?
|
| Glycogen Storage Disease Type II | 2 | 2006 | 43 | 0.300 |
Why?
|
| Adrenal Hyperplasia, Congenital | 2 | 2009 | 94 | 0.290 |
Why?
|
| Phenylketonurias | 2 | 2005 | 128 | 0.270 |
Why?
|
| Chromosomes, Human, X | 2 | 2006 | 319 | 0.270 |
Why?
|
| Hepatomegaly | 2 | 2024 | 83 | 0.250 |
Why?
|
| Splenomegaly | 2 | 2024 | 191 | 0.240 |
Why?
|
| Acyl-CoA Dehydrogenases | 2 | 2007 | 24 | 0.210 |
Why?
|
| Membrane Transport Proteins | 2 | 2006 | 1029 | 0.210 |
Why?
|
| Rare Diseases | 3 | 2024 | 629 | 0.200 |
Why?
|
| Spectrometry, Mass, Electrospray Ionization | 2 | 2003 | 267 | 0.200 |
Why?
|
| Infant | 16 | 2024 | 36424 | 0.200 |
Why?
|
| Growth Hormone | 2 | 1994 | 567 | 0.200 |
Why?
|
| Amino Acid Metabolism, Inborn Errors | 4 | 2009 | 284 | 0.200 |
Why?
|
| 3-Hydroxyacyl CoA Dehydrogenases | 1 | 2001 | 59 | 0.190 |
Why?
|
| Multienzyme Complexes | 1 | 2005 | 663 | 0.190 |
Why?
|
| Hydrolases | 1 | 2022 | 146 | 0.190 |
Why?
|
| Mass Spectrometry | 7 | 2006 | 2197 | 0.180 |
Why?
|
| N-Acetylgalactosamine-4-Sulfatase | 1 | 2020 | 2 | 0.180 |
Why?
|
| Mucopolysaccharidosis VI | 1 | 2020 | 4 | 0.180 |
Why?
|
| Mucopolysaccharidosis II | 1 | 2020 | 26 | 0.170 |
Why?
|
| Mucopolysaccharidosis I | 1 | 2020 | 53 | 0.170 |
Why?
|
| Creatine Kinase | 1 | 2001 | 682 | 0.160 |
Why?
|
| Child, Preschool | 17 | 2024 | 42509 | 0.160 |
Why?
|
| Glycine | 1 | 2001 | 671 | 0.140 |
Why?
|
| Ornithine Carbamoyltransferase Deficiency Disease | 2 | 1994 | 23 | 0.130 |
Why?
|
| Child | 21 | 2024 | 80567 | 0.130 |
Why?
|
| Fatty Acid Desaturases | 2 | 1992 | 102 | 0.130 |
Why?
|
| Acyl-CoA Dehydrogenase | 2 | 2008 | 57 | 0.120 |
Why?
|
| Uric Acid | 1 | 2001 | 809 | 0.120 |
Why?
|
| Humans | 49 | 2024 | 766019 | 0.120 |
Why?
|
| Rhabdomyolysis | 3 | 2024 | 150 | 0.110 |
Why?
|
| Heterozygote | 1 | 2001 | 2796 | 0.110 |
Why?
|
| Hypoparathyroidism | 1 | 1994 | 136 | 0.100 |
Why?
|
| Abnormalities, Multiple | 3 | 2001 | 1424 | 0.100 |
Why?
|
| Brain Diseases, Metabolic | 1 | 1992 | 44 | 0.100 |
Why?
|
| Patient Acceptance of Health Care | 1 | 2024 | 3229 | 0.090 |
Why?
|
| Acidosis | 1 | 1992 | 271 | 0.090 |
Why?
|
| Hematopoietic Stem Cell Transplantation | 2 | 2024 | 5752 | 0.090 |
Why?
|
| Pediatrics | 1 | 2005 | 3609 | 0.080 |
Why?
|
| Oxygen | 3 | 2006 | 4247 | 0.080 |
Why?
|
| Methylmalonic Acid | 2 | 2005 | 50 | 0.080 |
Why?
|
| Enzyme Assays | 1 | 2010 | 103 | 0.080 |
Why?
|
| Retrospective Studies | 6 | 2024 | 81544 | 0.080 |
Why?
|
| Ventricular Function, Left | 1 | 2022 | 3926 | 0.080 |
Why?
|
| Critical Illness | 1 | 2022 | 2749 | 0.080 |
Why?
|
| Plasma Membrane Neurotransmitter Transport Proteins | 2 | 2006 | 23 | 0.080 |
Why?
|
| Paper | 1 | 2009 | 80 | 0.080 |
Why?
|
| Databases, Factual | 1 | 2024 | 8062 | 0.080 |
Why?
|
| Glucosephosphate Dehydrogenase Deficiency | 1 | 2009 | 95 | 0.080 |
Why?
|
| Adolescent | 12 | 2024 | 88808 | 0.080 |
Why?
|
| Hypoglycemia | 3 | 2024 | 896 | 0.070 |
Why?
|
| Hemoglobinopathies | 1 | 2009 | 101 | 0.070 |
Why?
|
| Stroke Volume | 1 | 2022 | 5591 | 0.070 |
Why?
|
| Language Development Disorders | 1 | 1989 | 194 | 0.070 |
Why?
|
| Blood Chemical Analysis | 1 | 2009 | 434 | 0.070 |
Why?
|
| Immunoassay | 1 | 2010 | 742 | 0.070 |
Why?
|
| Oxidoreductases Acting on CH-CH Group Donors | 1 | 2007 | 172 | 0.060 |
Why?
|
| Male | 21 | 2024 | 363880 | 0.060 |
Why?
|
| Hospitalization | 2 | 2024 | 10804 | 0.060 |
Why?
|
| Muscle Hypotonia | 2 | 2005 | 166 | 0.060 |
Why?
|
| Homocystinuria | 1 | 2005 | 66 | 0.060 |
Why?
|
| Respiratory Therapy | 1 | 1985 | 124 | 0.060 |
Why?
|
| Prevalence | 1 | 2022 | 15820 | 0.060 |
Why?
|
| Female | 24 | 2024 | 396174 | 0.060 |
Why?
|
| Carbon Dioxide | 2 | 1986 | 1138 | 0.060 |
Why?
|
| Survivors | 1 | 2015 | 2375 | 0.060 |
Why?
|
| Delphi Technique | 1 | 2008 | 892 | 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 | 168 | 0.060 |
Why?
|
| Genetic Diseases, Inborn | 1 | 2009 | 606 | 0.060 |
Why?
|
| Propionates | 2 | 1995 | 180 | 0.060 |
Why?
|
| Young Adult | 4 | 2024 | 59858 | 0.060 |
Why?
|
| Tandem Mass Spectrometry | 1 | 2010 | 1195 | 0.060 |
Why?
|
| Hypothyroidism | 1 | 2009 | 665 | 0.050 |
Why?
|
| Galactosemias | 1 | 2004 | 124 | 0.050 |
Why?
|
| Hyperargininemia | 1 | 2003 | 12 | 0.050 |
Why?
|
| Electronic Mail | 1 | 2005 | 215 | 0.050 |
Why?
|
| Clinical Protocols | 1 | 2008 | 1437 | 0.050 |
Why?
|
| Patient Care Management | 1 | 2006 | 301 | 0.050 |
Why?
|
| Glutarates | 1 | 2004 | 243 | 0.050 |
Why?
|
| New England | 2 | 2003 | 1059 | 0.050 |
Why?
|
| Incidence | 1 | 2021 | 21509 | 0.050 |
Why?
|
| False Negative Reactions | 1 | 2003 | 570 | 0.050 |
Why?
|
| Massachusetts | 3 | 2005 | 8882 | 0.050 |
Why?
|
| Cardiomegaly | 1 | 2005 | 590 | 0.050 |
Why?
|
| Muscle Weakness | 1 | 2005 | 412 | 0.050 |
Why?
|
| Eye | 1 | 2006 | 710 | 0.050 |
Why?
|
| Nerve Tissue Proteins | 2 | 2006 | 4399 | 0.050 |
Why?
|
| Oxygen Inhalation Therapy | 1 | 2005 | 419 | 0.050 |
Why?
|
| Carboxylic Acids | 1 | 2001 | 91 | 0.050 |
Why?
|
| Epidemiologic Studies | 1 | 2005 | 677 | 0.050 |
Why?
|
| Monitoring, Physiologic | 2 | 1986 | 1794 | 0.050 |
Why?
|
| Carnitine O-Palmitoyltransferase | 1 | 2001 | 82 | 0.050 |
Why?
|
| Education, Distance | 1 | 2005 | 260 | 0.050 |
Why?
|
| Retinal Degeneration | 1 | 2005 | 413 | 0.050 |
Why?
|
| Medical History Taking | 1 | 2005 | 779 | 0.050 |
Why?
|
| Dicarboxylic Acids | 1 | 2001 | 75 | 0.050 |
Why?
|
| Caprylates | 1 | 2001 | 114 | 0.040 |
Why?
|
| Parents | 2 | 2004 | 3591 | 0.040 |
Why?
|
| Chromosomes, Human, Pair 2 | 1 | 2001 | 313 | 0.040 |
Why?
|
| Adult | 11 | 2024 | 223110 | 0.040 |
Why?
|
| Glutamine | 1 | 2003 | 575 | 0.040 |
Why?
|
| Trisomy | 1 | 2001 | 260 | 0.040 |
Why?
|
| Cystic Fibrosis | 1 | 2009 | 1284 | 0.040 |
Why?
|
| Education, Medical, Continuing | 1 | 2005 | 829 | 0.040 |
Why?
|
| Age of Onset | 2 | 2005 | 3342 | 0.040 |
Why?
|
| Chromosomes, Human, Pair 9 | 1 | 2001 | 533 | 0.040 |
Why?
|
| Cost-Benefit Analysis | 2 | 2016 | 5528 | 0.040 |
Why?
|
| Steroids | 1 | 2004 | 934 | 0.040 |
Why?
|
| Brain Edema | 1 | 2003 | 601 | 0.040 |
Why?
|
| Stress, Psychological | 2 | 2004 | 4527 | 0.040 |
Why?
|
| Parenting | 1 | 2004 | 708 | 0.040 |
Why?
|
| Gene Deletion | 1 | 2006 | 2667 | 0.040 |
Why?
|
| Disease Management | 1 | 2008 | 2530 | 0.040 |
Why?
|
| Ammonia | 2 | 2003 | 244 | 0.040 |
Why?
|
| Health Resources | 1 | 2024 | 951 | 0.040 |
Why?
|
| Genetic Linkage | 1 | 2003 | 2342 | 0.040 |
Why?
|
| MELAS Syndrome | 1 | 1997 | 54 | 0.030 |
Why?
|
| Middle Aged | 5 | 2024 | 223035 | 0.030 |
Why?
|
| Chromosome Deletion | 1 | 2001 | 1384 | 0.030 |
Why?
|
| Treatment Outcome | 2 | 2020 | 65203 | 0.030 |
Why?
|
| Critical Care | 2 | 1986 | 2714 | 0.030 |
Why?
|
| Algorithms | 3 | 2007 | 14065 | 0.030 |
Why?
|
| Magnetic Resonance Spectroscopy | 1 | 2006 | 3679 | 0.030 |
Why?
|
| Data Collection | 1 | 2005 | 3318 | 0.030 |
Why?
|
| Phosphorylation | 1 | 2006 | 8290 | 0.030 |
Why?
|
| Isoleucine | 1 | 1994 | 111 | 0.030 |
Why?
|
| Chromosome Aberrations | 1 | 2001 | 1775 | 0.030 |
Why?
|
| 3-Hydroxybutyric Acid | 1 | 1994 | 72 | 0.030 |
Why?
|
| Hydroxybutyrates | 1 | 1994 | 75 | 0.030 |
Why?
|
| Age Determination by Skeleton | 1 | 1994 | 124 | 0.030 |
Why?
|
| Genetic Testing | 1 | 2007 | 3592 | 0.030 |
Why?
|
| Sensitivity and Specificity | 1 | 2009 | 14644 | 0.030 |
Why?
|
| Cross-Over Studies | 1 | 2020 | 2108 | 0.030 |
Why?
|
| Blood-Brain Barrier | 1 | 2020 | 1036 | 0.030 |
Why?
|
| Nitrogen | 1 | 1994 | 344 | 0.030 |
Why?
|
| DNA Mutational Analysis | 1 | 2001 | 4112 | 0.030 |
Why?
|
| Mutation | 3 | 2005 | 30210 | 0.030 |
Why?
|
| Consanguinity | 1 | 1994 | 460 | 0.030 |
Why?
|
| Growth | 1 | 1994 | 365 | 0.030 |
Why?
|
| Ketone Bodies | 1 | 1992 | 76 | 0.020 |
Why?
|
| Predictive Value of Tests | 2 | 2006 | 15403 | 0.020 |
Why?
|
| Gas Chromatography-Mass Spectrometry | 1 | 1992 | 355 | 0.020 |
Why?
|
| Child Development | 1 | 2003 | 2327 | 0.020 |
Why?
|
| Basal Ganglia | 1 | 1995 | 550 | 0.020 |
Why?
|
| Genes, Recessive | 1 | 1994 | 625 | 0.020 |
Why?
|
| Physician-Patient Relations | 1 | 2005 | 3269 | 0.020 |
Why?
|
| Practice Guidelines as Topic | 1 | 2008 | 7423 | 0.020 |
Why?
|
| Attitude of Health Personnel | 1 | 2005 | 3928 | 0.020 |
Why?
|
| Communication | 1 | 2005 | 3908 | 0.020 |
Why?
|
| Fetal Growth Retardation | 1 | 1994 | 591 | 0.020 |
Why?
|
| Genotype | 1 | 2005 | 13027 | 0.020 |
Why?
|
| Cerebral Infarction | 1 | 1995 | 968 | 0.020 |
Why?
|
| Antibodies, Neutralizing | 1 | 2020 | 2011 | 0.020 |
Why?
|
| Dietary Proteins | 1 | 1994 | 960 | 0.020 |
Why?
|
| Maple Syrup Urine Disease | 1 | 1989 | 41 | 0.020 |
Why?
|
| Language Tests | 1 | 1989 | 191 | 0.020 |
Why?
|
| Polymerase Chain Reaction | 1 | 1997 | 6057 | 0.020 |
Why?
|
| Syndrome | 1 | 1994 | 3270 | 0.020 |
Why?
|
| Phenotype | 1 | 2006 | 16714 | 0.020 |
Why?
|
| Animals | 1 | 2020 | 168801 | 0.020 |
Why?
|
| Disease Progression | 1 | 2005 | 13614 | 0.020 |
Why?
|
| Infant Formula | 1 | 2008 | 192 | 0.020 |
Why?
|
| Insulin-Like Growth Factor I | 1 | 1994 | 1935 | 0.020 |
Why?
|
| Cobamides | 1 | 2005 | 12 | 0.020 |
Why?
|
| Partial Pressure | 1 | 1985 | 247 | 0.020 |
Why?
|
| Hydroxocobalamin | 1 | 2005 | 27 | 0.020 |
Why?
|
| Asphyxia Neonatorum | 1 | 1986 | 112 | 0.020 |
Why?
|
| Betaine | 1 | 2005 | 90 | 0.020 |
Why?
|
| Osteochondrodysplasias | 1 | 1986 | 183 | 0.010 |
Why?
|
| Recombinant Proteins | 1 | 1994 | 6492 | 0.010 |
Why?
|
| Pregnancy | 2 | 2024 | 30228 | 0.010 |
Why?
|
| Amino Acids, Basic | 1 | 2003 | 9 | 0.010 |
Why?
|
| Thorax | 1 | 1986 | 554 | 0.010 |
Why?
|
| Time Factors | 1 | 2005 | 40100 | 0.010 |
Why?
|
| Methionine | 1 | 2005 | 569 | 0.010 |
Why?
|
| Respiration Disorders | 1 | 2006 | 364 | 0.010 |
Why?
|
| Point Mutation | 1 | 2008 | 1591 | 0.010 |
Why?
|
| Diabetes Mellitus, Type 1 | 1 | 1997 | 3445 | 0.010 |
Why?
|
| Arginase | 1 | 2003 | 81 | 0.010 |
Why?
|
| Microscopy, Electron | 2 | 1997 | 2543 | 0.010 |
Why?
|
| Homocysteine | 1 | 2005 | 638 | 0.010 |
Why?
|
| Genetic Counseling | 1 | 2006 | 634 | 0.010 |
Why?
|
| Vision, Ocular | 1 | 2005 | 457 | 0.010 |
Why?
|
| Pelvis | 1 | 1986 | 737 | 0.010 |
Why?
|
| Larynx | 1 | 1986 | 492 | 0.010 |
Why?
|
| Prospective Studies | 2 | 2003 | 54804 | 0.010 |
Why?
|
| Chromosome Painting | 1 | 2001 | 26 | 0.010 |
Why?
|
| Chorionic Villi Sampling | 1 | 2001 | 35 | 0.010 |
Why?
|
| Bone Density | 1 | 1994 | 3491 | 0.010 |
Why?
|
| Lymphangioma, Cystic | 1 | 2001 | 34 | 0.010 |
Why?
|
| Chromosome Banding | 1 | 2001 | 261 | 0.010 |
Why?
|
| Creatine | 1 | 2003 | 424 | 0.010 |
Why?
|
| Psychomotor Performance | 1 | 1989 | 1885 | 0.010 |
Why?
|
| Blood Specimen Collection | 1 | 2001 | 238 | 0.010 |
Why?
|
| Musculoskeletal Diseases | 1 | 2006 | 598 | 0.010 |
Why?
|
| Breast Feeding | 1 | 2008 | 1363 | 0.010 |
Why?
|
| United States | 2 | 2024 | 72918 | 0.010 |
Why?
|
| Prognosis | 1 | 2020 | 29905 | 0.010 |
Why?
|
| Arginine | 1 | 2003 | 931 | 0.010 |
Why?
|
| Karyotyping | 1 | 2001 | 1175 | 0.010 |
Why?
|
| Prenatal Diagnosis | 1 | 2006 | 1271 | 0.010 |
Why?
|
| Follow-Up Studies | 1 | 2020 | 39233 | 0.010 |
Why?
|
| Biological Transport | 1 | 2003 | 2080 | 0.010 |
Why?
|
| Chromosome Disorders | 1 | 2001 | 498 | 0.010 |
Why?
|
| Ethidium | 1 | 1997 | 27 | 0.010 |
Why?
|
| Phosphorus Radioisotopes | 1 | 1997 | 100 | 0.010 |
Why?
|
| Blood Glucose | 1 | 1992 | 6420 | 0.010 |
Why?
|
| Gastrointestinal Diseases | 1 | 2006 | 1204 | 0.010 |
Why?
|
| Sequence Analysis, DNA | 1 | 2008 | 4779 | 0.010 |
Why?
|
| Electron Transport | 1 | 1997 | 211 | 0.010 |
Why?
|
| Autoradiography | 1 | 1997 | 723 | 0.010 |
Why?
|
| Mitochondria, Muscle | 1 | 1997 | 170 | 0.010 |
Why?
|
| Neuropsychological Tests | 1 | 1989 | 7118 | 0.010 |
Why?
|
| Visual Acuity | 1 | 2005 | 2672 | 0.010 |
Why?
|
| In Situ Hybridization, Fluorescence | 1 | 2001 | 2510 | 0.010 |
Why?
|
| Developmental Disabilities | 1 | 2003 | 1519 | 0.010 |
Why?
|
| Attitude to Health | 1 | 2003 | 2020 | 0.010 |
Why?
|
| General Surgery | 1 | 2006 | 1722 | 0.010 |
Why?
|
| Social Support | 1 | 2004 | 2190 | 0.010 |
Why?
|
| Retina | 1 | 2005 | 2646 | 0.010 |
Why?
|
| Putamen | 1 | 1995 | 288 | 0.010 |
Why?
|
| Globus Pallidus | 1 | 1995 | 247 | 0.010 |
Why?
|
| Renal Dialysis | 1 | 2003 | 1791 | 0.010 |
Why?
|
| Liver | 2 | 2003 | 7558 | 0.010 |
Why?
|
| Caudate Nucleus | 1 | 1995 | 388 | 0.010 |
Why?
|
| Mitochondria, Liver | 1 | 1994 | 190 | 0.010 |
Why?
|
| Heart Diseases | 1 | 2006 | 2817 | 0.010 |
Why?
|
| Aphasia | 1 | 1995 | 193 | 0.010 |
Why?
|
| Ultrasonography, Prenatal | 1 | 2001 | 1772 | 0.010 |
Why?
|
| Muscles | 1 | 1997 | 1576 | 0.010 |
Why?
|
| Cohort Studies | 1 | 2015 | 41677 | 0.010 |
Why?
|
| Gestational Age | 1 | 2001 | 3616 | 0.010 |
Why?
|
| DNA, Mitochondrial | 1 | 1997 | 872 | 0.010 |
Why?
|
| Diagnosis, Differential | 1 | 2007 | 12975 | 0.010 |
Why?
|
| Health Status | 1 | 2003 | 4083 | 0.010 |
Why?
|
| Necrosis | 1 | 1995 | 1614 | 0.010 |
Why?
|
| Fatal Outcome | 1 | 1995 | 1836 | 0.010 |
Why?
|
| Fluorescent Dyes | 1 | 1997 | 1927 | 0.010 |
Why?
|
| Age Factors | 1 | 1985 | 18382 | 0.000 |
Why?
|
| Kidney | 1 | 2003 | 7072 | 0.000 |
Why?
|
| Electrodes | 1 | 1986 | 610 | 0.000 |
Why?
|
| Biopsy | 1 | 1994 | 6768 | 0.000 |
Why?
|
| Temperature | 1 | 1986 | 2227 | 0.000 |
Why?
|
| Pedigree | 1 | 1986 | 4535 | 0.000 |
Why?
|
| Skin | 1 | 1986 | 4482 | 0.000 |
Why?
|
| Tomography, X-Ray Computed | 1 | 1995 | 20699 | 0.000 |
Why?
|
| Magnetic Resonance Imaging | 1 | 1995 | 36547 | 0.000 |
Why?
|