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1Academic Journal
المؤلفون: C. R. Roe, B-z Yang, H. Brunengraber, D. S. Roe, M. Wallace, B. K. Garritson, H. Brunengraber Md, M. Wallace Rd
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.617.9297; http://www.fodsupport.org/documents/FinalNeuroCPTII-C7-7-22-08.pdf
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2
المؤلفون: C R Roe, F. Demaugre, Audrey Boutron, A. Legrand, J. M. Saudubray, Michèle Brivet, F. Poggi, David S. Millington, Abdelhamid Slama
المصدر: Journal of Inherited Metabolic Disease. 19:181-184
مصطلحات موضوعية: Male, medicine.medical_specialty, Acylation, Carnitine-acylcarnitine translocase, Carnitine, Internal medicine, Genetics, medicine, Humans, Carnitine palmitoyltransferase II, Translocase, Lymphocytes, Carnitine-acylcarnitine translocase deficiency, Inner mitochondrial membrane, Genetics (clinical), Retrospective Studies, Carnitine O-Palmitoyltransferase, biology, Infant, Intracellular Membranes, Fibroblasts, medicine.disease, Mitochondria, Endocrinology, Carnitine Acyltransferases, Biochemistry, Mitochondrial matrix, biology.protein, Female, Carnitine palmitoyltransferase I, medicine.drug
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3
المؤلفون: David S. Millington, N. Terada, D H Chace, C R Roe, Stephen G. Kahler, L F Hofman
المصدر: Clinical Chemistry. 39:66-71
مصطلحات موضوعية: chemistry.chemical_classification, Spots, Biochemistry, Chemistry, Biochemistry (medical), Clinical Biochemistry, Phenylalanine, Sample preparation, Tyrosine, Tandem mass spectrometry, Quantitative analysis (chemistry), Amino acid, Whole blood
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4
المؤلفون: N M, Verhoeven, D S, Roe, R M, Kok, R J, Wanders, C, Jakobs, C R, Roe
المصدر: Journal of lipid research. 39(1)
مصطلحات موضوعية: Phytanic Acid, Carnitine Acyltransferases, Carnitine O-Palmitoyltransferase, Fatty Acids, Humans, Fibroblasts, Zellweger Syndrome, Microbodies, Oxidation-Reduction, Cells, Cultured, Gas Chromatography-Mass Spectrometry, Mass Spectrometry, Mitochondria
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5
المؤلفون: B S, Andresen, P, Bross, C, Vianey-Saban, P, Divry, M T, Zabot, C R, Roe, M A, Nada, A, Byskov, T A, Kruse, S, Neve, K, Kristiansen, I, Knudsen, M J, Corydon, N, Gregersen
المصدر: Human molecular genetics. 5(4)
مصطلحات موضوعية: Male, DNA, Complementary, Base Sequence, Sequence Homology, Amino Acid, Acyl-CoA Dehydrogenase, Long-Chain, Blotting, Western, Molecular Sequence Data, Infant, Newborn, Chromosome Mapping, Infant, Acyl-CoA Dehydrogenases, Child, Preschool, Mutation, Humans, Female, Tissue Distribution, Amino Acid Sequence, Cloning, Molecular, Chromosomes, Human, Pair 17, DNA Primers
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6
المؤلفون: M A, Nada, C, Vianey-Saban, C R, Roe, J H, Ding, M, Mathieu, R S, Wappner, M G, Bialer, J A, McGlynn, G, Mandon
المصدر: Prenatal diagnosis. 16(2)
مصطلحات موضوعية: Male, Acyl-CoA Dehydrogenase, Long-Chain, Infant, Newborn, Gestational Age, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Mass Spectrometry, Mitochondria, Pregnancy, Amniocentesis, Humans, Female, Carboxylic Ester Hydrolases, Oxidation-Reduction
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7
المؤلفون: D H, Chace, S L, Hillman, D S, Millington, S G, Kahler, C R, Roe, E W, Naylor
المصدر: Clinical chemistry. 41(1)
مصطلحات موضوعية: Paper, Neonatal Screening, Maple Syrup Urine Disease, Leucine, Reference Values, Phenylalanine, Infant, Newborn, Humans, False Positive Reactions, Valine, Isoleucine, Sensitivity and Specificity, Mass Spectrometry
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8
المؤلفون: Stephen G. Kahler, Diane S. Roe, D H Chace, David S. Millington, J. L. K. Van Hove, C R Roe, S J R Heales
المصدر: Pediatric research. 35(1)
مصطلحات موضوعية: medicine.medical_specialty, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Excretion, Hemiterpenes, Acyl-CoA Dehydrogenases, Oral administration, Internal medicine, Carnitine, Medicine, Humans, Acetylcarnitine, Pentanoic Acids, Amino Acid Metabolism, Inborn Errors, chemistry.chemical_classification, biology, business.industry, Fatty acid, Acyl CoA dehydrogenase, Metabolism, Isovaleric Acidemia, Endocrinology, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Injections, Intravenous, biology.protein, Female, Safety, business, medicine.drug
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9
المصدر: World review of nutrition and dietetics. 75
مصطلحات موضوعية: Fatty Acids, Humans, Oxidation-Reduction, Lipid Metabolism, Inborn Errors
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10
المؤلفون: D H, Chace, D S, Millington, N, Terada, S G, Kahler, C R, Roe, L F, Hofman
المصدر: Clinical chemistry. 39(1)
مصطلحات موضوعية: Quality Control, Neonatal Screening, Reference Values, Phenylalanine, Phenylketonurias, Infant, Newborn, North Carolina, Humans, Tyrosine, Mass Spectrometry
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11
المؤلفون: D R, Groothuis, B E, Lippitz, I, Fekete, K E, Schlageter, P, Molnar, O M, Colvin, C R, Roe, D D, Bigner, H S, Friedman
المصدر: Cancer research. 52(20)
مصطلحات موضوعية: Mice, Inbred BALB C, Aminoisobutyric Acids, Amino Acid Transport Systems, Brain Neoplasms, Transplantation, Heterologous, Mice, Nude, Biological Transport, Fasting, Glioma, Mice, Animals, Humans, Dietary Proteins, Amino Acids, Carrier Proteins, Melphalan, Neoplasm Transplantation
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12
المؤلفون: C.S. Kim, J D Mann, George R. Breese, C R Roe
المصدر: Journal of neurochemistry. 58(4)
مصطلحات موضوعية: Anions, Male, medicine.medical_specialty, Biogenic Amines, Metabolite, Biochemistry, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Dopamine, Internal medicine, medicine, Animals, Chemistry, 5-Hydroxyindoleacetic acid, Homovanillic acid, Osmolar Concentration, Organic acid transport, Brain, Biological Transport, Rats, Inbred Strains, Hydroxyindoleacetic Acid, Rats, Monoamine neurotransmitter, Endocrinology, nervous system, Choroid Plexus, Organic anion transport, Choroid plexus, Caprylates, Acids, hormones, hormone substitutes, and hormone antagonists, medicine.drug
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13
المصدر: American journal of human genetics. 50(1)
مصطلحات موضوعية: Heterozygote, Base Sequence, Homozygote, Molecular Sequence Data, nutritional and metabolic diseases, DNA, Polymerase Chain Reaction, Pedigree, Acyl-CoA Dehydrogenases, Mutation, Humans, Cloning, Molecular, Alleles, Research Article
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14
المؤلفون: D S, Millington, N, Terada, D H, Chace, Y T, Chen, J H, Ding, N, Kodo, C R, Roe
المصدر: Progress in clinical and biological research. 375
مصطلحات موضوعية: Fatty Acid Desaturases, Fatty Acids, Mutation, Infant, Newborn, Humans, Genetic Testing, Spectrometry, Mass, Fast Atom Bombardment, Fetal Blood, Oxidation-Reduction, Polymerase Chain Reaction, Acyl-CoA Dehydrogenase, Metabolism, Inborn Errors, Sudden Infant Death
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15
المؤلفون: J H, Ding, P, Bross, B Z, Yang, A K, Iafolla, D S, Millington, C R, Roe, N, Gregersen, Y T, Chen
المصدر: Progress in clinical and biological research. 375
مصطلحات موضوعية: Fatty Acid Desaturases, Base Sequence, Genome, Human, Molecular Sequence Data, DNA, Gene Expression Regulation, Bacterial, Acyl-CoA Dehydrogenase, Gene Frequency, Mutation, Escherichia coli, Humans, Cloning, Molecular, Alleles, Metabolism, Inborn Errors
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16
المؤلفون: Horst Schulz, David S. Millington, C R Roe, B S Mohammed, R McVie, N. Kodo, Daniel L. Norwood, Howard Sprecher, M. A. Nada
المصدر: The Journal of clinical investigation. 85(5)
مصطلحات موضوعية: Fatty Acid Desaturases, Oxidoreductases Acting on CH-CH Group Donors, Coenzyme A, Linoleic acid, Hyperlysinemia, Reductase, Fatty Acids, Nonesterified, Gas Chromatography-Mass Spectrometry, Lipid Metabolism, Inborn Errors, Linoleic Acid, chemistry.chemical_compound, Reductase Deficiency, Reference Values, medicine, Humans, Beta oxidation, Unsaturated fatty acid, chemistry.chemical_classification, Chemistry, Muscles, Fatty acid, General Medicine, medicine.disease, Biochemistry, Linoleic Acids, Liver, Female, Research Article
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17
المؤلفون: David S. Millington, C R Roe, Daniel L. Norwood, N. Kodo
المصدر: Journal of inherited metabolic disease. 13(3)
مصطلحات موضوعية: Paper, Infant, Newborn, Computational biology, Biology, Tandem mass spectrometry, MCADD, medicine.disease, Umbilical cord, Dehydrogenase deficiency, Mass Spectrometry, medicine.anatomical_structure, Neonatal Screening, Biochemistry, Carnitine, Genetics, medicine, Humans, Genetics (clinical), Metabolism, Inborn Errors
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18
المؤلفون: D E, Hale, C, Thorpe, K, Braat, J H, Wright, C R, Roe, P M, Coates, T, Hashimoto, A M, Glasgow
المصدر: Progress in clinical and biological research. 321
مصطلحات موضوعية: Fatty Acid Desaturases, Mutation, Humans, Infant, Carbohydrate Dehydrogenases, Fasting, Fibroblasts, Acyl-CoA Dehydrogenase, Cells, Cultured, Substrate Specificity
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19
المؤلفون: C R, Roe, D S, Millington, S G, Kahler, N, Kodo, D L, Norwood
المصدر: Progress in clinical and biological research. 321
مصطلحات موضوعية: Carnitine, Homeostasis, Humans, Mass Spectrometry, Metabolism, Inborn Errors
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20
المؤلفون: Iafolla Ak, Yuan-Tsong Chen, C R Roe, Jia-Huan Ding
المصدر: New England Journal of Medicine. 325:61-62
مصطلحات موضوعية: Fatty Acid Desaturases, biology, business.industry, Infant, Acyl CoA dehydrogenase, General Medicine, Acyl-CoA Dehydrogenase, Biochemistry, biology.protein, Humans, Medicine, business, Sudden Infant Death, Sudden infant death, Medium chain acyl coenzyme A dehydrogenase