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 | 9 | 2022 | 122 | 3.210 |
Why?
|
| Neonatal Screening | 15 | 2021 | 590 | 1.880 |
Why?
|
| Metabolism, Inborn Errors | 13 | 2009 | 288 | 1.540 |
Why?
|
| Enzyme Replacement Therapy | 5 | 2022 | 78 | 1.340 |
Why?
|
| Mucopolysaccharidosis VII | 3 | 2024 | 4 | 1.280 |
Why?
|
| Glycosaminoglycans | 5 | 2024 | 624 | 1.080 |
Why?
|
| Acyl-CoA Dehydrogenase, Long-Chain | 5 | 2021 | 52 | 1.000 |
Why?
|
| Mucopolysaccharidoses | 1 | 2020 | 27 | 0.720 |
Why?
|
| Fatty Acids | 8 | 2022 | 1809 | 0.560 |
Why?
|
| Lysosomal Storage Diseases | 3 | 2016 | 79 | 0.560 |
Why?
|
| Oxidation-Reduction | 6 | 2022 | 2183 | 0.460 |
Why?
|
| Glucuronidase | 3 | 2024 | 207 | 0.400 |
Why?
|
| Cardiomyopathies | 3 | 2022 | 1911 | 0.390 |
Why?
|
| Carnitine | 6 | 2008 | 245 | 0.340 |
Why?
|
| Glycogen Storage Disease Type II | 2 | 2006 | 41 | 0.320 |
Why?
|
| Adrenal Hyperplasia, Congenital | 2 | 2009 | 98 | 0.310 |
Why?
|
| Infant, Newborn | 24 | 2022 | 25609 | 0.300 |
Why?
|
| Chromosomes, Human, X | 2 | 2006 | 296 | 0.290 |
Why?
|
| Phenylketonurias | 2 | 2005 | 122 | 0.290 |
Why?
|
| Triglycerides | 3 | 2022 | 2453 | 0.290 |
Why?
|
| Hepatomegaly | 2 | 2024 | 85 | 0.270 |
Why?
|
| Splenomegaly | 2 | 2024 | 190 | 0.260 |
Why?
|
| Rare Diseases | 3 | 2024 | 552 | 0.220 |
Why?
|
| Acyl-CoA Dehydrogenases | 2 | 2007 | 25 | 0.220 |
Why?
|
| Amino Acid Metabolism, Inborn Errors | 4 | 2009 | 255 | 0.220 |
Why?
|
| Membrane Transport Proteins | 2 | 2006 | 1030 | 0.220 |
Why?
|
| Spectrometry, Mass, Electrospray Ionization | 2 | 2003 | 277 | 0.210 |
Why?
|
| 3-Hydroxyacyl CoA Dehydrogenases | 1 | 2001 | 60 | 0.200 |
Why?
|
| Growth Hormone | 2 | 1994 | 705 | 0.200 |
Why?
|
| Hydrolases | 1 | 2022 | 139 | 0.200 |
Why?
|
| Multienzyme Complexes | 1 | 2005 | 686 | 0.190 |
Why?
|
| Mass Spectrometry | 7 | 2006 | 2203 | 0.190 |
Why?
|
| N-Acetylgalactosamine-4-Sulfatase | 1 | 2020 | 2 | 0.190 |
Why?
|
| Mucopolysaccharidosis VI | 1 | 2020 | 4 | 0.190 |
Why?
|
| Mucopolysaccharidosis II | 1 | 2020 | 27 | 0.180 |
Why?
|
| Mucopolysaccharidosis I | 1 | 2020 | 50 | 0.180 |
Why?
|
| Creatine Kinase | 1 | 2001 | 694 | 0.170 |
Why?
|
| Glycine | 1 | 2001 | 670 | 0.150 |
Why?
|
| Infant | 14 | 2022 | 35122 | 0.150 |
Why?
|
| Ornithine Carbamoyltransferase Deficiency Disease | 2 | 1994 | 23 | 0.140 |
Why?
|
| Uric Acid | 1 | 2001 | 765 | 0.130 |
Why?
|
| Fatty Acid Desaturases | 2 | 1992 | 102 | 0.130 |
Why?
|
| Acyl-CoA Dehydrogenase | 2 | 2008 | 58 | 0.130 |
Why?
|
| Heterozygote | 1 | 2001 | 2803 | 0.120 |
Why?
|
| Hypoparathyroidism | 1 | 1994 | 120 | 0.110 |
Why?
|
| Humans | 47 | 2024 | 743811 | 0.110 |
Why?
|
| Child, Preschool | 15 | 2020 | 40964 | 0.110 |
Why?
|
| Brain Diseases, Metabolic | 1 | 1992 | 41 | 0.100 |
Why?
|
| Abnormalities, Multiple | 3 | 2001 | 1416 | 0.100 |
Why?
|
| Child | 19 | 2022 | 77637 | 0.100 |
Why?
|
| Hematopoietic Stem Cell Transplantation | 2 | 2024 | 5445 | 0.090 |
Why?
|
| Acidosis | 1 | 1992 | 271 | 0.090 |
Why?
|
| Pediatrics | 1 | 2005 | 3474 | 0.090 |
Why?
|
| Oxygen | 3 | 2006 | 4189 | 0.090 |
Why?
|
| Methylmalonic Acid | 2 | 2005 | 49 | 0.090 |
Why?
|
| Ventricular Function, Left | 1 | 2022 | 3660 | 0.090 |
Why?
|
| Enzyme Assays | 1 | 2010 | 111 | 0.090 |
Why?
|
| Critical Illness | 1 | 2022 | 2670 | 0.080 |
Why?
|
| Stroke Volume | 1 | 2022 | 5002 | 0.080 |
Why?
|
| Plasma Membrane Neurotransmitter Transport Proteins | 2 | 2006 | 19 | 0.080 |
Why?
|
| Paper | 1 | 2009 | 85 | 0.080 |
Why?
|
| Glucosephosphate Dehydrogenase Deficiency | 1 | 2009 | 89 | 0.080 |
Why?
|
| Hemoglobinopathies | 1 | 2009 | 96 | 0.080 |
Why?
|
| Language Development Disorders | 1 | 1989 | 194 | 0.070 |
Why?
|
| Blood Chemical Analysis | 1 | 2009 | 440 | 0.070 |
Why?
|
| Immunoassay | 1 | 2010 | 751 | 0.070 |
Why?
|
| Rhabdomyolysis | 2 | 2019 | 150 | 0.070 |
Why?
|
| Delphi Technique | 1 | 2008 | 777 | 0.070 |
Why?
|
| Oxidoreductases Acting on CH-CH Group Donors | 1 | 2007 | 167 | 0.070 |
Why?
|
| Prevalence | 1 | 2022 | 15211 | 0.060 |
Why?
|
| Muscle Hypotonia | 2 | 2005 | 165 | 0.060 |
Why?
|
| Homocystinuria | 1 | 2005 | 67 | 0.060 |
Why?
|
| Respiratory Therapy | 1 | 1985 | 132 | 0.060 |
Why?
|
| Survivors | 1 | 2015 | 2291 | 0.060 |
Why?
|
| Carbon Dioxide | 2 | 1986 | 1150 | 0.060 |
Why?
|
| Vitamin B 12 Deficiency | 1 | 2005 | 116 | 0.060 |
Why?
|
| Macula Lutea | 1 | 2005 | 151 | 0.060 |
Why?
|
| Propionates | 2 | 1995 | 169 | 0.060 |
Why?
|
| False Positive Reactions | 2 | 2003 | 980 | 0.060 |
Why?
|
| Tandem Mass Spectrometry | 1 | 2010 | 1156 | 0.060 |
Why?
|
| Genetic Diseases, Inborn | 1 | 2009 | 588 | 0.060 |
Why?
|
| Hypothyroidism | 1 | 2009 | 659 | 0.060 |
Why?
|
| Galactosemias | 1 | 2004 | 125 | 0.060 |
Why?
|
| Hyperargininemia | 1 | 2003 | 12 | 0.060 |
Why?
|
| Electronic Mail | 1 | 2005 | 213 | 0.050 |
Why?
|
| Glutarates | 1 | 2004 | 236 | 0.050 |
Why?
|
| Patient Care Management | 1 | 2006 | 306 | 0.050 |
Why?
|
| Clinical Protocols | 1 | 2008 | 1459 | 0.050 |
Why?
|
| New England | 2 | 2003 | 1022 | 0.050 |
Why?
|
| Incidence | 1 | 2021 | 20948 | 0.050 |
Why?
|
| Retrospective Studies | 5 | 2022 | 77410 | 0.050 |
Why?
|
| Massachusetts | 3 | 2005 | 8660 | 0.050 |
Why?
|
| False Negative Reactions | 1 | 2003 | 588 | 0.050 |
Why?
|
| Oxygen Inhalation Therapy | 1 | 2005 | 367 | 0.050 |
Why?
|
| Cardiomegaly | 1 | 2005 | 621 | 0.050 |
Why?
|
| Muscle Weakness | 1 | 2005 | 413 | 0.050 |
Why?
|
| Eye | 1 | 2006 | 727 | 0.050 |
Why?
|
| Carboxylic Acids | 1 | 2001 | 97 | 0.050 |
Why?
|
| Nerve Tissue Proteins | 2 | 2006 | 4463 | 0.050 |
Why?
|
| Epidemiologic Studies | 1 | 2005 | 676 | 0.050 |
Why?
|
| Dicarboxylic Acids | 1 | 2001 | 69 | 0.050 |
Why?
|
| Monitoring, Physiologic | 2 | 1986 | 1738 | 0.050 |
Why?
|
| Carnitine O-Palmitoyltransferase | 1 | 2001 | 86 | 0.050 |
Why?
|
| Retinal Degeneration | 1 | 2005 | 415 | 0.050 |
Why?
|
| Medical History Taking | 1 | 2005 | 782 | 0.050 |
Why?
|
| Education, Distance | 1 | 2005 | 251 | 0.050 |
Why?
|
| Caprylates | 1 | 2001 | 111 | 0.050 |
Why?
|
| Parents | 2 | 2004 | 3403 | 0.050 |
Why?
|
| Chromosomes, Human, Pair 2 | 1 | 2001 | 326 | 0.040 |
Why?
|
| Cystic Fibrosis | 1 | 2009 | 1178 | 0.040 |
Why?
|
| Male | 19 | 2020 | 349776 | 0.040 |
Why?
|
| Glutamine | 1 | 2003 | 579 | 0.040 |
Why?
|
| Trisomy | 1 | 2001 | 265 | 0.040 |
Why?
|
| Hypoglycemia | 2 | 2019 | 861 | 0.040 |
Why?
|
| Age of Onset | 2 | 2005 | 3268 | 0.040 |
Why?
|
| Female | 22 | 2024 | 380020 | 0.040 |
Why?
|
| Cost-Benefit Analysis | 2 | 2016 | 5388 | 0.040 |
Why?
|
| Chromosomes, Human, Pair 9 | 1 | 2001 | 535 | 0.040 |
Why?
|
| Education, Medical, Continuing | 1 | 2005 | 840 | 0.040 |
Why?
|
| Stress, Psychological | 2 | 2004 | 4245 | 0.040 |
Why?
|
| Steroids | 1 | 2004 | 930 | 0.040 |
Why?
|
| Parenting | 1 | 2004 | 678 | 0.040 |
Why?
|
| Brain Edema | 1 | 2003 | 617 | 0.040 |
Why?
|
| Gene Deletion | 1 | 2006 | 2749 | 0.040 |
Why?
|
| Disease Management | 1 | 2008 | 2459 | 0.040 |
Why?
|
| Ammonia | 2 | 2003 | 239 | 0.040 |
Why?
|
| Adolescent | 10 | 2020 | 85729 | 0.040 |
Why?
|
| MELAS Syndrome | 1 | 1997 | 50 | 0.040 |
Why?
|
| Genetic Linkage | 1 | 2003 | 2419 | 0.040 |
Why?
|
| Treatment Outcome | 2 | 2020 | 63042 | 0.040 |
Why?
|
| Chromosome Deletion | 1 | 2001 | 1396 | 0.030 |
Why?
|
| Algorithms | 3 | 2007 | 13869 | 0.030 |
Why?
|
| Critical Care | 2 | 1986 | 2647 | 0.030 |
Why?
|
| Magnetic Resonance Spectroscopy | 1 | 2006 | 3758 | 0.030 |
Why?
|
| Data Collection | 1 | 2005 | 3339 | 0.030 |
Why?
|
| Isoleucine | 1 | 1994 | 112 | 0.030 |
Why?
|
| Phosphorylation | 1 | 2006 | 8436 | 0.030 |
Why?
|
| 3-Hydroxybutyric Acid | 1 | 1994 | 88 | 0.030 |
Why?
|
| Chromosome Aberrations | 1 | 2001 | 1811 | 0.030 |
Why?
|
| Hydroxybutyrates | 1 | 1994 | 82 | 0.030 |
Why?
|
| Cross-Over Studies | 1 | 2020 | 2029 | 0.030 |
Why?
|
| Age Determination by Skeleton | 1 | 1994 | 129 | 0.030 |
Why?
|
| Genetic Testing | 1 | 2007 | 3439 | 0.030 |
Why?
|
| Sensitivity and Specificity | 1 | 2009 | 14714 | 0.030 |
Why?
|
| Blood-Brain Barrier | 1 | 2020 | 1018 | 0.030 |
Why?
|
| Nitrogen | 1 | 1994 | 344 | 0.030 |
Why?
|
| Mutation | 3 | 2005 | 29777 | 0.030 |
Why?
|
| Consanguinity | 1 | 1994 | 455 | 0.030 |
Why?
|
| Predictive Value of Tests | 2 | 2006 | 15067 | 0.030 |
Why?
|
| DNA Mutational Analysis | 1 | 2001 | 4183 | 0.030 |
Why?
|
| Growth | 1 | 1994 | 376 | 0.030 |
Why?
|
| Ketone Bodies | 1 | 1992 | 83 | 0.030 |
Why?
|
| Child Development | 1 | 2003 | 2212 | 0.030 |
Why?
|
| Gas Chromatography-Mass Spectrometry | 1 | 1992 | 361 | 0.030 |
Why?
|
| Basal Ganglia | 1 | 1995 | 546 | 0.030 |
Why?
|
| Genes, Recessive | 1 | 1994 | 641 | 0.030 |
Why?
|
| Practice Guidelines as Topic | 1 | 2008 | 7270 | 0.020 |
Why?
|
| Physician-Patient Relations | 1 | 2005 | 3229 | 0.020 |
Why?
|
| Attitude of Health Personnel | 1 | 2005 | 3839 | 0.020 |
Why?
|
| Communication | 1 | 2005 | 3748 | 0.020 |
Why?
|
| Fetal Growth Retardation | 1 | 1994 | 566 | 0.020 |
Why?
|
| Genotype | 1 | 2005 | 12944 | 0.020 |
Why?
|
| Antibodies, Neutralizing | 1 | 2020 | 1978 | 0.020 |
Why?
|
| Cerebral Infarction | 1 | 1995 | 1011 | 0.020 |
Why?
|
| Dietary Proteins | 1 | 1994 | 962 | 0.020 |
Why?
|
| Maple Syrup Urine Disease | 1 | 1989 | 39 | 0.020 |
Why?
|
| Language Tests | 1 | 1989 | 198 | 0.020 |
Why?
|
| Phenotype | 1 | 2006 | 16361 | 0.020 |
Why?
|
| Disease Progression | 1 | 2005 | 13273 | 0.020 |
Why?
|
| Syndrome | 1 | 1994 | 3249 | 0.020 |
Why?
|
| Polymerase Chain Reaction | 1 | 1997 | 6170 | 0.020 |
Why?
|
| Animals | 1 | 2020 | 168660 | 0.020 |
Why?
|
| Adult | 9 | 2020 | 213889 | 0.020 |
Why?
|
| Infant Formula | 1 | 2008 | 199 | 0.020 |
Why?
|
| Insulin-Like Growth Factor I | 1 | 1994 | 2017 | 0.020 |
Why?
|
| Cobamides | 1 | 2005 | 12 | 0.020 |
Why?
|
| Partial Pressure | 1 | 1985 | 254 | 0.020 |
Why?
|
| Hydroxocobalamin | 1 | 2005 | 31 | 0.020 |
Why?
|
| Asphyxia Neonatorum | 1 | 1986 | 107 | 0.020 |
Why?
|
| Betaine | 1 | 2005 | 86 | 0.020 |
Why?
|
| Osteochondrodysplasias | 1 | 1986 | 182 | 0.020 |
Why?
|
| Pregnancy | 2 | 2024 | 29140 | 0.020 |
Why?
|
| Recombinant Proteins | 1 | 1994 | 6620 | 0.020 |
Why?
|
| Amino Acids, Basic | 1 | 2003 | 10 | 0.010 |
Why?
|
| Thorax | 1 | 1986 | 547 | 0.010 |
Why?
|
| Time Factors | 1 | 2005 | 40038 | 0.010 |
Why?
|
| Methionine | 1 | 2005 | 590 | 0.010 |
Why?
|
| Arginase | 1 | 2003 | 78 | 0.010 |
Why?
|
| Diabetes Mellitus, Type 1 | 1 | 1997 | 3338 | 0.010 |
Why?
|
| Respiration Disorders | 1 | 2006 | 371 | 0.010 |
Why?
|
| Point Mutation | 1 | 2008 | 1623 | 0.010 |
Why?
|
| Genetic Counseling | 1 | 2006 | 600 | 0.010 |
Why?
|
| Microscopy, Electron | 2 | 1997 | 2646 | 0.010 |
Why?
|
| Vision, Ocular | 1 | 2005 | 457 | 0.010 |
Why?
|
| Homocysteine | 1 | 2005 | 647 | 0.010 |
Why?
|
| Pelvis | 1 | 1986 | 730 | 0.010 |
Why?
|
| Prospective Studies | 2 | 2003 | 53250 | 0.010 |
Why?
|
| Chromosome Painting | 1 | 2001 | 27 | 0.010 |
Why?
|
| Chorionic Villi Sampling | 1 | 2001 | 32 | 0.010 |
Why?
|
| Larynx | 1 | 1986 | 494 | 0.010 |
Why?
|
| Lymphangioma, Cystic | 1 | 2001 | 34 | 0.010 |
Why?
|
| Bone Density | 1 | 1994 | 3460 | 0.010 |
Why?
|
| Chromosome Banding | 1 | 2001 | 278 | 0.010 |
Why?
|
| Creatine | 1 | 2003 | 421 | 0.010 |
Why?
|
| Young Adult | 2 | 2019 | 56392 | 0.010 |
Why?
|
| Psychomotor Performance | 1 | 1989 | 1895 | 0.010 |
Why?
|
| Blood Specimen Collection | 1 | 2001 | 246 | 0.010 |
Why?
|
| Musculoskeletal Diseases | 1 | 2006 | 581 | 0.010 |
Why?
|
| Breast Feeding | 1 | 2008 | 1338 | 0.010 |
Why?
|
| Prognosis | 1 | 2020 | 29052 | 0.010 |
Why?
|
| Arginine | 1 | 2003 | 943 | 0.010 |
Why?
|
| Karyotyping | 1 | 2001 | 1243 | 0.010 |
Why?
|
| Prenatal Diagnosis | 1 | 2006 | 1237 | 0.010 |
Why?
|
| Follow-Up Studies | 1 | 2020 | 39001 | 0.010 |
Why?
|
| Chromosome Disorders | 1 | 2001 | 510 | 0.010 |
Why?
|
| Biological Transport | 1 | 2003 | 2119 | 0.010 |
Why?
|
| Ethidium | 1 | 1997 | 27 | 0.010 |
Why?
|
| Phosphorus Radioisotopes | 1 | 1997 | 104 | 0.010 |
Why?
|
| Blood Glucose | 1 | 1992 | 6259 | 0.010 |
Why?
|
| Gastrointestinal Diseases | 1 | 2006 | 1171 | 0.010 |
Why?
|
| Electron Transport | 1 | 1997 | 211 | 0.010 |
Why?
|
| Sequence Analysis, DNA | 1 | 2008 | 4803 | 0.010 |
Why?
|
| Autoradiography | 1 | 1997 | 745 | 0.010 |
Why?
|
| Visual Acuity | 1 | 2005 | 2525 | 0.010 |
Why?
|
| Mitochondria, Muscle | 1 | 1997 | 171 | 0.010 |
Why?
|
| Middle Aged | 3 | 2019 | 213241 | 0.010 |
Why?
|
| Neuropsychological Tests | 1 | 1989 | 6976 | 0.010 |
Why?
|
| Developmental Disabilities | 1 | 2003 | 1452 | 0.010 |
Why?
|
| In Situ Hybridization, Fluorescence | 1 | 2001 | 2649 | 0.010 |
Why?
|
| Social Support | 1 | 2004 | 2118 | 0.010 |
Why?
|
| General Surgery | 1 | 2006 | 1636 | 0.010 |
Why?
|
| Attitude to Health | 1 | 2003 | 2052 | 0.010 |
Why?
|
| Retina | 1 | 2005 | 2612 | 0.010 |
Why?
|
| Putamen | 1 | 1995 | 291 | 0.010 |
Why?
|
| Globus Pallidus | 1 | 1995 | 253 | 0.010 |
Why?
|
| Renal Dialysis | 1 | 2003 | 1783 | 0.010 |
Why?
|
| Liver | 2 | 2003 | 7479 | 0.010 |
Why?
|
| Caudate Nucleus | 1 | 1995 | 392 | 0.010 |
Why?
|
| Mitochondria, Liver | 1 | 1994 | 187 | 0.010 |
Why?
|
| Aphasia | 1 | 1995 | 184 | 0.010 |
Why?
|
| Ultrasonography, Prenatal | 1 | 2001 | 1695 | 0.010 |
Why?
|
| Heart Diseases | 1 | 2006 | 2789 | 0.010 |
Why?
|
| Gestational Age | 1 | 2001 | 3488 | 0.010 |
Why?
|
| Muscles | 1 | 1997 | 1613 | 0.010 |
Why?
|
| Cohort Studies | 1 | 2015 | 40545 | 0.010 |
Why?
|
| DNA, Mitochondrial | 1 | 1997 | 815 | 0.010 |
Why?
|
| Diagnosis, Differential | 1 | 2007 | 12954 | 0.010 |
Why?
|
| Necrosis | 1 | 1995 | 1642 | 0.010 |
Why?
|
| Health Status | 1 | 2003 | 4031 | 0.010 |
Why?
|
| Fatal Outcome | 1 | 1995 | 1851 | 0.010 |
Why?
|
| Fluorescent Dyes | 1 | 1997 | 1903 | 0.010 |
Why?
|
| Age Factors | 1 | 1985 | 18355 | 0.010 |
Why?
|
| Kidney | 1 | 2003 | 7185 | 0.000 |
Why?
|
| Hospitalization | 1 | 2003 | 10259 | 0.000 |
Why?
|
| Electrodes | 1 | 1986 | 616 | 0.000 |
Why?
|
| Biopsy | 1 | 1994 | 6750 | 0.000 |
Why?
|
| Temperature | 1 | 1986 | 2202 | 0.000 |
Why?
|
| United States | 1 | 2007 | 69859 | 0.000 |
Why?
|
| Pedigree | 1 | 1986 | 4643 | 0.000 |
Why?
|
| Skin | 1 | 1986 | 4372 | 0.000 |
Why?
|
| Tomography, X-Ray Computed | 1 | 1995 | 20121 | 0.000 |
Why?
|
| Magnetic Resonance Imaging | 1 | 1995 | 35409 | 0.000 |
Why?
|