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المصدر: Clin Chem
مصطلحات موضوعية: Clinical Chemist, Chemistry, Hexanoylglycine, Biochemistry (medical), Clinical Biochemistry, MCADD, medicine.disease, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Biochemistry, Suberylglycine, medicine, Humans, Presentation (obstetrics), Biomarkers, Medium chain acyl coenzyme A dehydrogenase
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2
المؤلفون: Xinying Hong, Fan Yi, František Tureček, Arun Kumar, C. Ronald Scott, Yang Liu, Naveen Kumar Chennamaneni, Michael H. Gelb
المصدر: Clinical Chemistry. 63:1118-1126
مصطلحات موضوعية: 0301 basic medicine, Clinical Biochemistry, Tandem mass spectrometry, Article, Tripeptidyl peptidase, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Tandem Mass Spectrometry, medicine, Humans, Multiplex, Dried blood, chemistry.chemical_classification, Newborn screening, Tripeptidyl-Peptidase 1, Chemistry, Biochemistry (medical), Selected reaction monitoring, Infant, Newborn, Mucopolysaccharidoses, medicine.disease, Lysosomal Storage Diseases, 030104 developmental biology, Enzyme, Biochemistry, Neuronal ceroid lipofuscinosis, Dried Blood Spot Testing, 030217 neurology & neurosurgery, Chromatography, Liquid
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المؤلفون: Ekaterina V. Koshkina, Alexey G. Katrukha, Kogan Ae, Marina V. Serebryakova, Ivan A Katrukha, Anastasia V. Bereznikova, Alexandra V Vylegzhanina
المصدر: Clinical Chemistry. 63:1094-1100
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Proteolysis, Clinical Biochemistry, Hirudin, 030204 cardiovascular system & hematology, law.invention, Cardiac Troponin complex, 03 medical and health sciences, 0302 clinical medicine, Thrombin, Troponin complex, law, Internal medicine, medicine, Myocardial infarction, biology, medicine.diagnostic_test, Chemistry, Biochemistry (medical), medicine.disease, Troponin, 030104 developmental biology, Endocrinology, Biochemistry, biology.protein, Recombinant DNA, medicine.drug
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المؤلفون: Connor Nishikawa, Jon A. Gangoiti, Bonnie Holmes, Wynonna S. Johnson, Ilya Gertsman, Bruce A. Barshop
المصدر: Clinical Chemistry. 62:766-772
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Cystinosis, Clinical Biochemistry, Cystine, 030204 cardiovascular system & hematology, Biology, Granulocyte, Immunomagnetic separation, Tandem mass spectrometry, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tandem Mass Spectrometry, Lysosomal storage disease, medicine, Humans, Child, Chromatography, Immunomagnetic Separation, Biochemistry (medical), Heterozygote advantage, Middle Aged, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Biochemistry, chemistry, Child, Preschool, Female, Chromatography, Liquid, Granulocytes, Blood drawing
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المؤلفون: Sioban Keel, Herbert L. Bonkovsky, Manisha Balwani, D. Montgomery Bissell, Robert J. Desnick, Hetanshi Naik, Eric Gou, John D. Phillips, Karl E. Anderson, Bruce Wang, Joseph R. Bloomer, Ashwani K. Singal
المصدر: Clinical chemistry, vol 61, iss 12
مصطلحات موضوعية: Male, Erythrocytes, Erythrocyte protoporphyrin, Medical Biotechnology, Clinical Biochemistry, Protoporphyrins, Medical Biochemistry and Metabolomics, Gastroenterology, chemistry.chemical_compound, Reference Values, Diagnosis, polycyclic compounds, Protoporphyria, Fluorometry, Child, General Clinical Medicine, integumentary system, Biochemistry, Child, Preschool, Reagent Kits, Female, Erythropoietic protoporphyria, Adult, medicine.medical_specialty, Protoporphyria, Erythropoietic, Adolescent, Clinical Sciences, Article, Lead poisoning, Diagnosis, Differential, Porphyrias, Rare Diseases, Clinical Research, Internal medicine, medicine, Humans, Diagnostic, Preschool, Biochemistry (medical), Zinc protoporphyrin, Infant, Newborn, Erythropoietic, Infant, Newborn, medicine.disease, Reference intervals, Lead Poisoning, chemistry, Reference values, Differential, Protoporphyrin, Reagent Kits, Diagnostic, Digestive Diseases
وصف الملف: application/pdf
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المؤلفون: František Tureček, Michael H. Gelb, C. Ronald Scott
المصدر: Clinical Chemistry. 61:335-346
مصطلحات موضوعية: Clinical Biochemistry, Mass spectrometry, Tandem mass spectrometry, Article, Neonatal Screening, Tandem Mass Spectrometry, False positive paradox, medicine, Humans, Fluorometry, Dried blood, Enzyme Assays, Newborn screening, Chromatography, biology, Chemistry, Biochemistry (medical), Infant, Newborn, Enzyme replacement therapy, medicine.disease, Fabry disease, Enzyme assay, Lysosomal Storage Diseases, Biochemistry, Immunologic Techniques, biology.protein, Dried Blood Spot Testing
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المؤلفون: Lauri Vaahtera, Jaakko Parkkinen, Outi Itkonen
المصدر: Clinical Chemistry. 59:1271-1273
مصطلحات موضوعية: chemistry.chemical_classification, 0303 health sciences, Chemistry, Thalassemia, Biochemistry (medical), Clinical Biochemistry, Albumin, 030204 cardiovascular system & hematology, medicine.disease, medicine.disease_cause, Bleomycin, 3. Good health, Amino acid, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Biochemistry, Reagent, medicine, Plasma iron, Hemochromatosis, Oxidative stress, 030304 developmental biology
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المؤلفون: Gerard T. Berry, Yijun Li, Judith L. Fridovich-Keil, Mark D. Kellogg, Ying Liu, Xiaoping Huang, Lauren Harmonay
المصدر: Clinical Chemistry. 60:783-790
مصطلحات موضوعية: Galactosemias, Erythrocytes, Clinical Biochemistry, Mass spectrometry, Sensitivity and Specificity, Cell Line, Substrate Specificity, UDPglucose 4-Epimerase, chemistry.chemical_compound, Tandem Mass Spectrometry, Liquid chromatography–mass spectrometry, Enzyme Stability, medicine, Humans, Chromatography, High Pressure Liquid, Chromatography, biology, Biochemistry (medical), Galactosemia, Reproducibility of Results, Substrate (chemistry), medicine.disease, Enzyme assay, Isoenzymes, Biochemistry, chemistry, biology.protein, Uridine diphosphate glucose, Hemoglobin, Uridine diphosphate galactose
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المؤلفون: Marinus Duran, Ulrike Steuerwald, Hans Hartmann, Ronald J.A. Wanders, Sabine Illsinger, Jos P.N. Ruiter, Thomas Lücke, Anibh M. Das, Hans R. Waterham
المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases
المصدر: Clinical chemistry, 52(3), 530-534. American Association for Clinical Chemistry Inc.
مصطلحات موضوعية: Male, Clinical Biochemistry, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein, Mitochondrion, medicine.disease_cause, Compound heterozygosity, Fatal Outcome, Multienzyme Complexes, medicine, Humans, Mutation, biology, Mitochondrial Trifunctional Protein, Thiolase, Biochemistry (medical), Infant, Newborn, Acetyl-CoA C-Acyltransferase, medicine.disease, Protein Subunits, Biochemistry, Lactic acidosis, Mitochondrial Trifunctional Protein, beta Subunit, biology.protein, Mitochondrial Trifunctional Protein, alpha Subunit, HADHB
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المؤلفون: Jens P. Goetze
المصدر: Clinical Chemistry. 58:83-91
مصطلحات موضوعية: medicine.drug_class, Clinical Biochemistry, Enteroendocrine cell, Peptide, Protein Sorting Signals, Biology, Natriuretic Peptide, Brain, Natriuretic peptide, medicine, Animals, Humans, Myocyte, Protein Precursors, Protein precursor, Immunoassay, chemistry.chemical_classification, Biochemistry (medical), medicine.disease, NPR2, Peptide Fragments, Amino acid, Biochemistry, chemistry, Cardiovascular Diseases, Heart failure, Calibration, Protein Processing, Post-Translational
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