نتائج البحث - "Ferdinandusse, S."

1

دورية أكاديمية

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes

المؤلفون: Welsink-Karssies, MM, van Weeghel, M, Hollak, CEM, Elfrink, HL, Janssen, MCH, Lai, K, Langendonk, Janneke, Oussoren, Esmeralda, Ruiter, JPN, Treacy, EP, Boersma - de Vries, M, Ferdinandusse, S, Bosch, AM

المصدر: Welsink-Karssies , MM , van Weeghel , M , Hollak , CEM , Elfrink , HL , Janssen , MCH , Lai , K , Langendonk , J , Oussoren , E , Ruiter , JPN , Treacy , EP , Boersma - de Vries , M , Ferdinandusse , S & Bosch , AM 2020 , ' The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes ' , Molecular Genetics and Metabolism , vol. 129 , pp. 171-176 . https://doi.org/10.1016/j.ymgme.2020.01.002Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.ymgme.2020.01.002Test
https://pure.eur.nl/en/publications/d61c8930-7ddb-406b-93c0-301a769d925eTest
https://pure.eur.nl/ws/files/48300535/1-s2.0-S109671921931323X-main.pdfTest

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2

دورية أكاديمية

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes

المؤلفون: Welsink-Karssies, MM, van Weeghel, M, Hollak, CEM, Elfrink, HL, Janssen, MCH, Lai, K, Langendonk, Janneke, Oussoren, Esmeralda, Ruiter, JPN, Treacy, EP, Boersma - de Vries, M, Ferdinandusse, S, Bosch, AM

المصدر: Welsink-Karssies , MM , van Weeghel , M , Hollak , CEM , Elfrink , HL , Janssen , MCH , Lai , K , Langendonk , J , Oussoren , E , Ruiter , JPN , Treacy , EP , Boersma - de Vries , M , Ferdinandusse , S & Bosch , AM 2020 , ' The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes ' , Molecular Genetics and Metabolism , vol. 129 , pp. 171-176 . https://doi.org/10.1016/j.ymgme.2020.01.002Test

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES026701, name=EMC NIHES-02-67-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/d61c8930-7ddb-406b-93c0-301a769d925eTest

الإتاحة: https://doi.org/10.1016/j.ymgme.2020.01.002Test
https://pure.eur.nl/en/publications/d61c8930-7ddb-406b-93c0-301a769d925eTest
https://pure.eur.nl/ws/files/48300535/1-s2.0-S109671921931323X-main.pdfTest

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3

دورية أكاديمية

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.

المؤلفون: Crefcoeur, L., Ferdinandusse, S., Crabben, S.N. van der, Dekkers, E., Fuchs, Sabine A., Huidekoper, H., Janssen, M.C.H., Langendonk, J., Maase, R., Sain, M. de, Rubio, E., Spronsen, F.J. van, Vaz, F.M., Verschoof, R., Vries, M.C. de, Wijburg, F., Visser, G., Langeveld, M.

المصدر: Journal of Medical Genetics, 60, 12, pp. 1177-1185

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 6: Metabolic Disorders Internal Medicine, Radboudumc 6: Metabolic Disorders Paediatrics

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/300093/300093.pdfTest; https://repository.ubn.ru.nl/handle/2066/300093Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109206Test
https://repository.ubn.ru.nl//bitstream/handle/2066/300093/300093.pdfTest
https://repository.ubn.ru.nl/handle/2066/300093Test

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4

دورية أكاديمية

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

المؤلفون: Bleeker, JC, Kok, IL, Ferdinandusse, S, Vries, M, Derks, TGJ, Mulder, MF (Margot), Williams, Monique, Gozalbo, ER, Bosch, AM, van den Hurk, DT, de Sain-van der Velden, MGM, Waterham, HR, Wijburg, FA, Visser, G

المصدر: Bleeker , JC , Kok , IL , Ferdinandusse , S , Vries , M , Derks , TGJ , Mulder , MF , Williams , M , Gozalbo , ER , Bosch , AM , van den Hurk , DT , de Sain-van der Velden , MGM , Waterham , HR , Wijburg , FA & Visser , G 2019 , ' Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 1 , pp. 159-168 . https://doi.org/10.1002/jimd.12037Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/jimd.12037Test
https://pure.eur.nl/en/publications/1ebe2ea1-7920-4bd6-b56b-84a6f1f86f79Test
https://pure.eur.nl/ws/files/48162943/Repub_115217_O-A.pdfTest
http://hdl.handle.net/1765/115217Test

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5

دورية أكاديمية

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

المؤلفون: Bleeker, JC, Kok, IL, Ferdinandusse, S, Vries, M, Derks, TGJ, Mulder, MF (Margot), Williams, Monique, Gozalbo, ER, Bosch, AM, van den Hurk, DT, de Sain-van der Velden, MGM, Waterham, HR, Wijburg, FA, Visser, G

المصدر: Bleeker , JC , Kok , IL , Ferdinandusse , S , Vries , M , Derks , TGJ , Mulder , MF , Williams , M , Gozalbo , ER , Bosch , AM , van den Hurk , DT , de Sain-van der Velden , MGM , Waterham , HR , Wijburg , FA & Visser , G 2019 , ' Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 1 , pp. 159-168 . https://doi.org/10.1002/jimd.12037Test

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/1ebe2ea1-7920-4bd6-b56b-84a6f1f86f79Test

الإتاحة: https://doi.org/10.1002/jimd.12037Test
https://pure.eur.nl/en/publications/1ebe2ea1-7920-4bd6-b56b-84a6f1f86f79Test
https://pure.eur.nl/ws/files/48162943/Repub_115217_O-A.pdfTest
http://hdl.handle.net/1765/115217Test

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6

دورية أكاديمية

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

المؤلفون: van Rijt, WJ, Ferdinandusse, S, Giannopoulos, P, Ruiter, JP, Boer, L, Bosch, AM, Huidekoper, Hidde, Rubio-Gozalbo, ME, Visser, G, Williams, Monique, Wanders, RJA, Derks, TGJ

المصدر: van Rijt , WJ , Ferdinandusse , S , Giannopoulos , P , Ruiter , JP , Boer , L , Bosch , AM , Huidekoper , H , Rubio-Gozalbo , ME , Visser , G , Williams , M , Wanders , RJA & Derks , TGJ 2019 , ' Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 878-889 . https://doi.org/10.1002/jimd.12147Test

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/ce103739-b1da-40e6-9730-68313ed71841Test

الإتاحة: https://doi.org/10.1002/jimd.12147Test
https://pure.eur.nl/en/publications/ce103739-b1da-40e6-9730-68313ed71841Test
https://pure.eur.nl/ws/files/48242447/REPUB_118477-OA.pdfTest
http://hdl.handle.net/1765/118477Test

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