المؤلفون: Joost Groen, Bas M. de Haan, Ruben J. Overduin, Andrea B. Haijer-Schreuder, Terry GJ Derks, M. Rebecca Heiner-Fokkema

المصدر: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-10 (2025)

مصطلحات موضوعية: Rare diseases, Machine learning, Inborn metabolic diseases, Artificial intelligence, Glycogen storage disease, Acylcarnitines, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/23fc132d3dcf49329ec12f486424deab

المؤلفون: Adrian Post, Dion Groothof, Daan Kremer, Tim J. Knobbe, Willem Abma, Christa A. Koops, Dimitrios Tsikas, Theo Wallimann, Robin P.F. Dullaart, Casper F.M. Franssen, Ido P. Kema, M. Rebecca Heiner-Fokkema, Stephan J.L. Bakker

المصدر: Amino Acids, Vol 56, Iss 1, Pp 1-18 (2024)

مصطلحات موضوعية: Creatine, Guanidinoacetate, Kidney transplant recipients, Measured glomerular filtration rate, Epidemiology, Biochemistry, QD415-436, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1438-2199

URL الوصول: https://doaj.org/article/2ab83bd126c3483fa2208ba6965c6b01

المؤلفون: Allysa M. Kuypers, Marelle J. Bouva, J. Gerard Loeber, Anita Boelen, Eugenie Dekkers, Konstantinos Petritis, C. Austin Pickens, The ISNS Representatives, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 4, p 82 (2024)

مصطلحات موضوعية: tyrosinemia type 1, neonatal screening, dried blood spots, inborn metabolic disease, succinylacetone, tyrosine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/10/4/82; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/2cdcb81239fd476f8362c25d2b13c3eb

المؤلفون: Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen, Charlotte M. A. Lubout

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 4, p 66 (2024)

مصطلحات موضوعية: n/a, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/10/4/66; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/7ee02139bffd4688b7546472fd289d03

المؤلفون: Jorine C. van der Weerd, Annemiek M. J. van Wegberg, Theo S. Boer, Udo F. H. Engelke, Karlien L. M. Coene, Ron A. Wevers, Stephan J. L. Bakker, Pim de Blaauw, Joost Groen, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema

المصدر: Metabolites, Vol 14, Iss 9, p 479 (2024)

مصطلحات موضوعية: untargeted, metabolomics, lipidomics, phenylketonuria, mass-spectrometry, phenylalanine, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-1989/14/9/479; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/fae5d80b4fa94ebc8c99864dd1ee9285

المؤلفون: Loek L. Crefcoeur, M. Rebecca Heiner‐Fokkema, Rose E. Maase, Gepke Visser, Monique G. M. deSain‐van der Velden

المصدر: JIMD Reports, Vol 64, Iss 1, Pp 57-64 (2023)

مصطلحات موضوعية: carnitine, FCE, newborn screening, PCD, plasma, ratio, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/fc92987426d44fa48da1bc75afdf5c18

المؤلفون: Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel, Tom G. J. Hofste, Martine van Zweeden, Ronny C. Derks, Nico F. A. Leijsten, Martina H. A. Ruiterkamp-Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G. M. de Sain-van der Velden, Els Voorhoeve, M. Rebecca Heiner-Fokkema, Francjan van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 20 (2024)

مصطلحات موضوعية: newborn screening, next-generation sequencing, inherited metabolic disorder, dried blood spots, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/10/1/20; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/693ce665f4784d2c83d6224c090b19b6

المؤلفون: Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen, Charlotte M. A. Lubout

المصدر: International Journal of Neonatal Screening, Vol 9, Iss 4, p 66 (2023)

مصطلحات موضوعية: tyrosinemia type 1, succinylacetone, cirrhosis, hepatocellular carcinoma, newborn screening, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/9/4/66; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/33564cba8f9b4f748a659a786b91d03e

المؤلفون: Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen

المصدر: International Journal of Neonatal Screening, Vol 9, Iss 4, p 56 (2023)

مصطلحات موضوعية: newborn screening, treatability, treatable, Wilson and Junger criteria, inborn errors of metabolism, inherited metabolic disorders, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/9/4/56; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/3d50f4a1bda74e6c8dfdc49c9d39ba02

المؤلفون: Bruce H. R. Wolffenbuttel, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: Alkaptonuria, Complications, Nitisinone, Personalized medicine, Prevention, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8caa9f33bf9641d69a001f8488e83e1a

المؤلفون: Allysa M. Dijkstra, Pim de Blaauw, Willemijn J. van Rijt, Hanneke Renting, Ronald G. H. J. Maatman, Francjan J. van Spronsen, Rose E. Maase, Peter C. J. I. Schielen, Terry G. J. Derks, M. Rebecca Heiner-Fokkema

المصدر: International Journal of Neonatal Screening, Vol 9, Iss 3, p 34 (2023)

مصطلحات موضوعية: amino acids, dried blood spots, inborn metabolic diseases, metabolite stability, neonatal blood spot screening, tandem mass spectrometry, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/9/3/34; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/40f240a025a94ae59aa75fd1e10fb80c

المؤلفون: Melany Rios-Morales, Mara P. H. van Trijp, Christiane Rösch, Ran An, Theo Boer, Albert Gerding, Naomi de Ruiter, Martijn Koehorst, M. Rebecca Heiner-Fokkema, Henk A. Schols, Dirk-Jan Reijngoud, Guido J. E. J. Hooiveld, Barbara M. Bakker

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/06a21ae74d734b99a00a021edd180d58

المؤلفون: Adrian Post, Joëlle C. Schutten, Daan Kremer, Yvonne van der Veen, Dion Groothof, Camilo G. Sotomayor, Christa A. Koops, Pim de Blaauw, Ido P. Kema, Ralf Westerhuis, Theo Wallimann, M. Rebecca Heiner-Fokkema, Stephan J. L. Bakker, Casper F. M. Franssen

المصدر: Journal of Translational Medicine, Vol 19, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Creatine, Guanidinoacetate, Arginine, Protein energy wasting, Muscle mass, Fatigue, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/f70a05a3516e46d9a765646ea6c48c76

المؤلفون: Karlien L. M. Coene, Corrie Timmer, Susan M. I. Goorden, Amber E. tenHoedt, Leo A. J. Kluijtmans, Mirian C. H. Janssen, Alexander J. M. Rennings, Hubertus C. M. T. Prinsen, Mirjam M. C. Wamelink, George J. G. Ruijter, Irene M. L. W. Körver‐Keularts, M. Rebecca Heiner‐Fokkema, Francjan J. vanSpronsen, Carla E. Hollak, Frédéric M. Vaz, Annet M. Bosch, Marleen C. D. G. Huigen

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 70-79 (2021)

مصطلحات موضوعية: bloodspot, DBS, hyperphenylalaninemia, laboratory variation, measurement, phenylalanine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/d052d767889e424bba5ce6198d1a2d46

المؤلفون: Ineke J. Riphagen, Isidor Minović, Dion Groothof, Adrian Post, Manfred L. Eggersdorfer, Jenny E. Kootstra-Ros, Martin H. de Borst, Gerjan Navis, Frits A. J. Muskiet, Ido P. Kema, M. Rebecca Heiner-Fokkema, Stephan J. L. Bakker

المصدر: BMC Medicine, Vol 18, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1741-7015

URL الوصول: https://doaj.org/article/2ce34ae936e04affb5f39e18d82660ae

المؤلفون: Bruce H. R. Wolffenbuttel, M. Rebecca Heiner-Fokkema, Ralph Green, Rijk O. B. Gans

المصدر: BMC Medicine, Vol 18, Iss 1, Pp 1-14 (2020)

مصطلحات موضوعية: Vitamin B12, Epidemiology, NHANES, Prognosis, Mortality, Supplement, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12916-020-01771-y; https://doaj.org/toc/1741-7015

URL الوصول: https://doaj.org/article/0de03bd66ebf4266a8a35960299ac9a0

المؤلفون: Hilde Laeremans, Charles Turner, Tommy Andersson, Jose Angel Cocho deJuan, Adam Gerrard, M. Rebecca Heiner‐Fokkema, Diran Herebian, Nils Janzen, Giancarlo laMarca, Mattias Rudebeck

المصدر: JIMD Reports, Vol 53, Iss 1, Pp 90-102 (2020)

مصطلحات موضوعية: dried blood spot, hereditary tyrosinemia type 1, nitisinone, succinylacetone, tandem mass spectrometry, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/6009c65edbbf49f4820c0f103370be32

المؤلفون: Kimber van Vliet, Wiggert G. van Ginkel, Esther van Dam, Pim de Blaauw, Martijn Koehorst, Hermi A. Kingma, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Phenylalanine, Tyrosine, Dried blood spots, Lithium heparin plasma, EDTA plasma, Tandem mass spectrometry, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-1343-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/89213eef49374052ac8036acb04552e2

المؤلفون: Anouk G. Groenen, Anouk M. La Rose, Mengying Li, Venetia Bazioti, Arthur F. Svendsen, Niels J. Kloosterhuis, Albertina Ausema, Alle Pranger, M. Rebecca Heiner-Fokkema, Klary E. Niezen-Koning, Tom Houben, Ronit Shiri-Sverdlov, Marit Westerterp

المصدر: Journal of Lipid Research, Vol 63, Iss 2, Pp 100167- (2022)

مصطلحات موضوعية: cholesterol/trafficking, storage diseases, neutrophils, macrophages/monocytes, animal models, inflammation, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227521001504; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/d9955d3f851b4a07a0a7d11d236a62ca

المؤلفون: Bruce H.R. Wolffenbuttel, MD, PhD, Hanneke J.C.M. Wouters, BSc, M. Rebecca Heiner-Fokkema, PhD, Melanie M. van der Klauw, MD, PhD

المصدر: Mayo Clinic Proceedings: Innovations, Quality & Outcomes, Vol 3, Iss 2, Pp 200-214 (2019)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2542454819300335; https://doaj.org/toc/2542-4548

URL الوصول: https://doaj.org/article/4ccd84a3445b4f71ab97fdcac3cc40f0