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1دورية أكاديمية
المؤلفون: van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B.G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J., Heiner-Fokkema, M. R.
المساهمون: Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg
مصطلحات موضوعية: maleic acid, maleylacetoacetate isomerase deficiency, newborn screening, succinylacetone, tyrosinemia type 1, Genetics(clinical), Genetics, Journal Article
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B.G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J., Heiner-Fokkema, M. R.
المصدر: van Vliet , K , Dijkstra , A M , Bouva , M J , van der Krogt , J , Bijsterveld , K , van der Sluijs , F , de Sain-van der Velden , M G , Koop , K , Rossi , A , Thomas , J A , Patera , C A , Kiewiet , M B G , Waters , P J , Cyr , D , Boelen , A , van Spronsen , F J & Heiner-Fokkema , M R 2023 , ' Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency : ....
مصطلحات موضوعية: maleic acid, maleylacetoacetate isomerase deficiency, newborn screening, succinylacetone, tyrosinemia type 1
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jimd.12669Test
https://hdl.handle.net/11370/006934b2-e040-419e-b7f5-8add98a90d5cTest
https://research.rug.nl/en/publications/006934b2-e040-419e-b7f5-8add98a90d5cTest
https://pure.rug.nl/ws/files/862911851/J_of_Inher_Metab_Disea_-_2023_-_Vliet_-_Maleic_acid_is_a_biomarker_for_maleylacetoacetate_isomerase_deficiency_.pdfTest
http://www.scopus.com/inward/record.url?scp=85167591588&partnerID=8YFLogxKTest -
3دورية أكاديمية
المؤلفون: Bouva, M J, Dankert-Roelse, J E, van der Ploeg, Cpb, Verschoof-Puite, R K, Zomer-van Ommen, D D, Gille, Jjp, Jakobs, B S, Heijnen, Mla, de Winter-de Groot, K M
المساهمون: Longziekten patientenzorg, Child Health
مصطلحات موضوعية: Bloodspot, Cystic fibrosis, DBS, The Netherlands, DNA, IRT, Newborn screening, PAP, Pulmonary and Respiratory Medicine, Pediatrics, Perinatology, and Child Health, Journal Article
وصف الملف: application/pdf
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4دورية أكاديمية
المؤلفون: Bouva, M. J., Dankert-Roelse, J. E., van der Ploeg, C. P. B., Verschoof-Puite, R. K., Zomer-van Ommen, D. D., Gille, J. J. P., Jakobs, B. S., Heijnen, M. L. A., de Winter-de Groot, K. M.
المصدر: Bouva , M J , Dankert-Roelse , J E , van der Ploeg , C P B , Verschoof-Puite , R K , Zomer-van Ommen , D D , Gille , J J P , Jakobs , B S , Heijnen , M L A & de Winter-de Groot , K M 2023 , ' Optimization of performance of Dutch newborn screening for cystic fibrosis ' , Journal of Cystic Fibrosis . https://doi.org/10.1016Test/j.jcf.2023.09.001
الإتاحة: https://doi.org/10.1016Test/j.jcf.2023.09.001
https://research.vumc.nl/en/publications/d8abc5e2-d975-4c33-bd00-56e5fe16ac0cTest
http://www.scopus.com/inward/record.url?scp=85171657354&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: Daniel Y., Elion J., Allaf B., Badens C., Bouva M. J., Brincat I., Cela E., Coppinger C., De Montalembert M., Gulbis B., Henthorn J., Ketelslegers O., McMahon C., Streetly A., Colombatti R., Lobitz S.
المساهمون: Daniel, Y., Elion, J., Allaf, B., Badens, C., Bouva, M. J., Brincat, I., Cela, E., Coppinger, C., De Montalembert, M., Gulbis, B., Henthorn, J., Ketelslegers, O., Mcmahon, C., Streetly, A., Colombatti, R., Lobitz, S.
مصطلحات موضوعية: Newborn, Screening, Sickle cell disease
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33072975; info:eu-repo/semantics/altIdentifier/wos/WOS:000489304200014; volume:5; issue:1; firstpage:15; journal:INTERNATIONAL JOURNAL OF NEONATAL SCREENING; http://hdl.handle.net/11577/3362914Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85062363583
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6دورية أكاديمية
المؤلفون: Lobitz S., Telfer P., Cela E., Allaf B., Angastiniotis M., Backman Johansson C., Badens C., Bento C., Bouva M. J., Canatan D., Charlton M., Coppinger C., Daniel Y., de Montalembert M., Ducoroy P., Dulin E., Fingerhut R., Frommel C., Garcia-Morin M., Gulbis B., Holtkamp U., Inusa B., James J., Kleanthous M., Klein J., Kunz J. B., Langabeer L., Lapoumeroulie C., Marcao A., Marin Soria J. L., McMahon C., Ohene-Frempong K., Perini J. -M., Piel F. B., Russo G., Sainati L., Schmugge M., Streetly A., Tshilolo L., Turner C., Venturelli D., Vilarinho L., Yahyaoui R., Elion J., Colombatti R.
المساهمون: Lobitz, S., Telfer, P., Cela, E., Allaf, B., Angastiniotis, M., Backman Johansson, C., Badens, C., Bento, C., Bouva, M. J., Canatan, D., Charlton, M., Coppinger, C., Daniel, Y., de Montalembert, M., Ducoroy, P., Dulin, E., Fingerhut, R., Frommel, C., Garcia-Morin, M., Gulbis, B., Holtkamp, U., Inusa, B., James, J., Kleanthous, M., Klein, J., Kunz, J. B., Langabeer, L., Lapoumeroulie, C., Marcao, A., Marin Soria, J. L., Mcmahon, C., Ohene-Frempong, K., Perini, J. -M., Piel, F. B., Russo, G., Sainati, L., Schmugge, M., Streetly, A., Tshilolo, L., Turner, C., Venturelli, D., Vilarinho, L., Yahyaoui, R., Elion, J., Colombatti, R.
مصطلحات موضوعية: haemoglobinopathie, newborn screening, prevention, sickle cell anaemia, sickle cell disease, Anemia, Sickle Cell, Consensus Development Conferences as Topic, Europe, Female, Human, Infant, Newborn, Male, Neonatal Screening, Practice Guidelines as Topic
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30334577; info:eu-repo/semantics/altIdentifier/wos/WOS:000451480400014; volume:183; issue:4; firstpage:648; lastpage:660; numberofpages:13; journal:BRITISH JOURNAL OF HAEMATOLOGY; http://hdl.handle.net/11577/3353238Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055279822
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7كتاب
المؤلفون: Kemper, E. A., Boelen, A., Bosch, A. M., van Veen-Sijne, M., van Rijswijk, C. N., Bouva, M. J., Fingerhut, R., Schielen, P. C. J. I.
المصدر: JIMD Reports ; JIMD Reports, Volume 32 ; page 1-6 ; ISSN 2192-8304 2192-8312 ; ISBN 9783662543849 9783662543856
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8دورية أكاديمية
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9دورية أكاديمية
المؤلفون: Bouva, M J, Sollaino, C, Perseu, L, Galanello, R, Giordano, P C, Harteveld, C L, Cnossen, M H, Schielen, P C J I, Elvers, L H, Peters, M
المصدر: Journal of Medical Screening ; volume 18, issue 4, page 182-186 ; ISSN 0969-1413 1475-5793
مصطلحات موضوعية: Public Health, Environmental and Occupational Health, Health Policy
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10
المؤلفون: Vansenne, F., de Borgie, C. A. J. M., Bouva, M. J., Legdeur, M. A., van Zwieten, R., Petrij, F., Peters, M.
المساهمون: Clinical Genetics, Other Research, Epidemiology and Data Science, Amsterdam Public Health, Other departments, Landsteiner Laboratory, Paediatric Infectious Diseases / Rheumatology / Immunology
المصدر: Nederlands Tijdschrift voor Geneeskunde, 153, 858-861. Bohn Stafleu van Loghum
Nederlands tijdschrift voor geneeskunde, 153(18), 858-861. Bohn Stafleu van Loghumالوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bd30058bfcf76c2a310cd4fd82228b2bTest
https://pure.eur.nl/en/publications/538dd201-54af-4113-bffd-91fb2ffa1681Test
