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المؤلفون: U. Holwerda, Desirée E.C. Smith, Gajja S. Salomons, J. G. Loeber, Warsha A. Kanhai, Ana Pop, P. C. J. I. Schielen, Saadet Mercimek-Mahmutoglu, M. Fernandez Ojeda
المساهمون: Laboratory Medicine, Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Mercimek-Mahmutoglu, S, Pop, A, Kanhai, W, Ojeda, M F, Holwerda, U, Smith, D E C, Loeber, J G, Schielen, P C J I & Salomons, G S 2016, ' A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene ', Gene, vol. 575, no. 1, pp. 127-131 . https://doi.org/10.1016/j.gene.2015.08.045
Gene, 575(1), 127-131. Elsevierمصطلحات موضوعية: Male, 0301 basic medicine, Mutation, Missense, Guanidinoacetate methyltransferase deficiency, Pilot Projects, Biology, Creatine, Bioinformatics, 03 medical and health sciences, symbols.namesake, chemistry.chemical_compound, 0302 clinical medicine, Genetics, medicine, Humans, Mass Screening, Missense mutation, Language Development Disorders, Mass screening, Sanger sequencing, Newborn screening, Movement Disorders, Incidence, Infant, Newborn, High-Throughput Nucleotide Sequencing, General Medicine, medicine.disease, Guanidinoacetate N-methyltransferase, 030104 developmental biology, chemistry, symbols, Female, Guanidinoacetate N-Methyltransferase, Databases, Nucleic Acid, Leiden Open Variation Database, 030217 neurology & neurosurgery
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المؤلفون: L. H. Elvers, P. C. J. I. Schielen, J. G. Loeber, Ph. Stoutenbeek, E. J. Wortelboer, Gerard H. A. Visser, M. P. H. Koster
المصدر: Prenatal Diagnosis. 29:588-592
مصطلحات موضوعية: Adult, Down syndrome, medicine.medical_specialty, Adolescent, Prenatal diagnosis, Young Adult, Pregnancy, Humans, Mass Screening, Pregnancy-Associated Plasma Protein-A, Medicine, Chorionic Gonadotropin, beta Subunit, Human, Neonatology, Risk factor, Genetics (clinical), Netherlands, Gynecology, business.industry, Multiple of the median, Obstetrics and Gynecology, Middle Aged, medicine.disease, Pregnancy Trimester, First, Gestation, Female, Down Syndrome, Nuchal Translucency Measurement, business, Trisomy
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المؤلفون: L. H. Elvers, M. van Leeuwen-Spruijt, P. Stoutenbeek, J. G. Loeber, Maria P.H. Koster, E. J. Wortelboer, G. H. A. Visser, P. C. J. I. Schielen
المصدر: Ultrasound in Obstetrics and Gynecology. 32:607-611
مصطلحات موضوعية: medicine.medical_specialty, Down syndrome, Gestational Age, Prenatal diagnosis, Context (language use), Crown-Rump Length, Pregnancy, Prenatal Diagnosis, Nuchal Translucency Measurement, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Netherlands, Retrospective Studies, Crown-rump length, Gynecology, Radiological and Ultrasound Technology, business.industry, Obstetrics, Obstetrics and Gynecology, Gestational age, General Medicine, Reference Standards, medicine.disease, Pregnancy Trimester, First, Reproductive Medicine, Sonographer, Female, Down Syndrome, business, Blood sampling
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المؤلفون: J. G. Loeber, L. H. Elvers, P. C. J. I. Schielen
المصدر: International Congress Series. 1279:213-220
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Down syndrome, Neural tube defect, business.industry, General Medicine, medicine.disease, Screening programme, Prenatal screening, Nuchal translucency, Risk analysis (engineering), medicine, Combined test, business, Risk assessment
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المؤلفون: M. Fukushi, M. Meyer, M. Caggana, Marion Koopmans, G.J.C. Borrajo, J. G. Loeber, M.L. Granados Cepeda, John S. Mackenzie, T. Torresani, L. H. Elvers, Adam Meijer, M. Schipper, Ilse Zutt, U. von Döbeln, M. Rosario Torres-Sepúlveda, A.R. Rama Devi, G. Martinez Castillo, I. Khneisser, Y. Giguere, L. Vilarinho, E. de Bruin
المساهمون: Virology, Child and Adolescent Psychiatry / Psychology, Pathology, University of Zurich, de Bruin, E
المصدر: Journal of Clinical Virology, 61(1), 74-80. Elsevier
مصطلحات موضوعية: Adult, Male, Adolescent, Protein Array Analysis, Dried bloodspots, Protein microarray, 610 Medicine & health, Hemagglutinin Glycoproteins, Influenza Virus, Antibodies, Viral, Global Health, Virus, Young Adult, Influenza A Virus, H1N1 Subtype, Neonatal Screening, Pregnancy, Virology, Pandemic, Influenza, Human, Seroprevalence, Medicine, Humans, Child, Pandemics, Aged, Aged, 80 and over, business.industry, Infant, Newborn, Outbreak, Infant, 2725 Infectious Diseases, Influenza pandemic, Middle Aged, Dried blood spot, Infectious Diseases, 10036 Medical Clinic, Novel virus, Child, Preschool, 2406 Virology, Female, business, Influenza virus
وصف الملف: application/pdf; deBruinE, 2014.pdf - application/pdf
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المؤلفون: S. Costagliola, P. Niccoli, M. Florentino, Pierre Carayon, P. Beck-Peccoz, J. Calaf, J. Rodriguez-Espinosa, J. G. Loeber, P. Luppa, M. Moreira, M. Roger, R. Roulier, J. Smitz, M. Wheeler
المصدر: Journal of Endocrinological Investigation. 17:407-416
مصطلحات موضوعية: Adult, Male, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Monoclonal antibody, Epitope, Epitopes, Endocrinology, Antibody Specificity, medicine, Humans, Renal Insufficiency, Child, biology, medicine.diagnostic_test, Antibodies, Monoclonal, Luteinizing Hormone, Middle Aged, Reference Standards, Immunohistochemistry, Molecular biology, Polycystic ovary, Polyclonal antibodies, Immunoassay, Calibration, Linear Models, biology.protein, Female, Antibody, Luteinizing hormone, Polycystic Ovary Syndrome
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المؤلفون: P. C. J. I. Schielen, Hajo I. J. Wildschut, J. G. Loeber
المساهمون: Obstetrics & Gynecology
المصدر: Prenatal Diagnosis, 29(2), 190-192. John Wiley & Sons Ltd.
مصطلحات موضوعية: Down syndrome, Down syndrome screening, Pregnancy, Pediatrics, medicine.medical_specialty, business.industry, Genetic counseling, Obstetrics and Gynecology, medicine.disease, Risk Assessment, ROC Curve, Prenatal Diagnosis, medicine, Humans, Mass Screening, Cutoff, Female, Down Syndrome, Genetic risk, business, Genetics (clinical), Netherlands
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المؤلفون: J. G. Loeber, E. J. Wortelboer, P. C. J. I. Schielen, M. P. H. Koster, Ph. Stoutenbeek, Gerard H. A. Visser
المصدر: Prenatal diagnosis. 28(10)
مصطلحات موضوعية: Risk, medicine.medical_specialty, Down syndrome, Prenatal diagnosis, Predictive Value of Tests, Pregnancy, Prenatal Diagnosis, medicine, Humans, Mass Screening, Genetics (clinical), Netherlands, medicine.diagnostic_test, Obstetrics, business.industry, Triple test, Pregnancy Outcome, Obstetrics and Gynecology, medicine.disease, Test (assessment), Surgery, Predictive value of tests, Pregnancy Trimester, Second, Female, False positive rate, Down Syndrome, business, Trisomy
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المؤلفون: Hans R. Waterham, Theo Boer, L. P. ten Kate, Trijnie Bos, Gerrit Smit, J. M. M. Rondeel, Dirk Reijngoud, Klaziena Niezen-Koning, A. van Assen, Jaap H. Ruiter, J. G. Loeber, Terry G J Derks, R. J. A. Wanders
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Human genetics, EMGO - Quality of care, Faculteit Medische Wetenschappen/UMCG, Groningen University Institute for Drug Exploration (GUIDE), Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Journal of inherited metabolic disease, 31(1), 88-96. Springer Netherlands
Journal of Inherited Metabolic Disease, 31(1), 88-96. Springer Netherlands
Journal of Inherited Metabolic Disease, 31(1), 88-96. SPRINGER
Derks, T G J, Boer, T S, van Assen, A, Bos, T, de Ruiter, J, Waterham, H R, Niezen-Koning, K E, Wanders, R J A, Rondeel, J M M, Loeber, J G, ten Kate, L P, Smit, G P A & Reijngoud, D J 2008, ' Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency ', Journal of Inherited Metabolic Disease, vol. 31, no. 1, pp. 88-96 . https://doi.org/10.1007/s10545-007-0492-3مصطلحات موضوعية: medicine.medical_specialty, Screening test, Genotype, DISORDERS, DNA Mutational Analysis, Pilot Projects, DIAGNOSIS, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, ACYLCARNITINES, BIOCHEMICAL PHENOTYPE, Neonatal Screening, Medium-chain acyl-CoA dehydrogenase, Internal medicine, Genetics, medicine, Leukocytes, Prevalence, Humans, Congenital adrenal hyperplasia, False Positive Reactions, Carnitine, Lymphocytes, TANDEM MASS-SPECTROMETRY, MUTATION, Genetics (clinical), Cells, Cultured, Netherlands, chemistry.chemical_classification, Newborn screening, business.industry, NEWBORNS, Follow up studies, Infant, Newborn, nutritional and metabolic diseases, medicine.disease, QUANTITATIVE-ANALYSIS, BLOOD SPOTS, MCAD activity, Enzyme, Endocrinology, chemistry, Molecular Diagnostic Techniques, Acyl Coenzyme A, business, medicine.drug, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf279e6d6ee87075ad71b110706d4d73
https://pure.amc.nl/en/publications/neonatal-screening-for-mediumchain-acylcoa-dehydrogenase-mcad-deficiency-in-the-netherlands-the-importance-of-enzyme-analysis-to-ascertain-true-mcad-deficiency(8e383323-b68b-4de7-8b08-2f5dc24aeff2).html -
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المؤلفون: M. van Leeuwen-Spruijt, L. H. Elvers, I. Belmouden, J. G. Loeber, P. C. J. I. Schielen, M. Jonker
مصطلحات موضوعية: Adult, medicine.medical_specialty, Pediatrics, Down syndrome, Adolescent, Quality Assurance, Health Care, Prenatal diagnosis, Pregnancy, Epidemiology, Medicine, Humans, Pregnancy-Associated Plasma Protein-A, Chorionic Gonadotropin, beta Subunit, Human, Genetics (clinical), Netherlands, Fetus, business.industry, Obstetrics, Obstetrics and Gynecology, Gestational age, Middle Aged, medicine.disease, Pregnancy Trimester, First, Gestation, Female, Down Syndrome, business, Trisomy, Nuchal Translucency Measurement
وصف الملف: 262903 bytes; application/pdf; YES
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf2d3cde7a744baccb44553fc901a96c
http://hdl.handle.net/10029/5557
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