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1دورية أكاديمية
المؤلفون: Hagemeijer, Marne, Oussoren, E, Ruijter, George, Onkenhout, W, Huidekoper, Hidde, Ebberink, Merel, Waterham, Hans R., Ferdinandusse, S, de Vries, Maaike C., Huigen, Marleen C.D.G., Kluijtmans, Leo A.J., Coene, Karlien L.M., Blom, Henk
المصدر: Hagemeijer , M , Oussoren , E , Ruijter , G , Onkenhout , W , Huidekoper , H , Ebberink , M , Waterham , H R , Ferdinandusse , S , de Vries , M C , Huigen , M C D G , Kluijtmans , L A J , Coene , K L M & Blom , H 2021 , ' Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity ' , JIMD Reports , vol. 61 , no. 1 , pp. 12-18 . https://doi.org/10.1002/jmd2.12223Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jmd2.12223Test
https://pure.eur.nl/en/publications/a763a44f-d6b8-4f2b-b879-69dbdb884871Test
https://pure.eur.nl/ws/files/54936539/JIMD_Reports_2021_Hagemeijer_Abnormal_VLCADD_newborn_screening_resembling_MADD_in_four_neonates_with_decreased.pdfTest -
2دورية أكاديمية
المؤلفون: Hagemeijer, Marne, Oussoren, E, Ruijter, George, Onkenhout, W, Huidekoper, Hidde, Ebberink, Merel, Waterham, Hans R., Ferdinandusse, S, de Vries, Maaike C., Huigen, Marleen C.D.G., Kluijtmans, Leo A.J., Coene, Karlien L.M., Blom, Henk
المصدر: Hagemeijer , M , Oussoren , E , Ruijter , G , Onkenhout , W , Huidekoper , H , Ebberink , M , Waterham , H R , Ferdinandusse , S , de Vries , M C , Huigen , M C D G , Kluijtmans , L A J , Coene , K L M & Blom , H 2021 , ' Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity ' , JIMD Reports , vol. 61 , no. 1 , pp. 12-18 . https://doi.org/10.1002/jmd2.12223Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jmd2.12223Test
https://pure.eur.nl/en/publications/a763a44f-d6b8-4f2b-b879-69dbdb884871Test
https://pure.eur.nl/ws/files/54936539/JIMD_Reports_2021_Hagemeijer_Abnormal_VLCADD_newborn_screening_resembling_MADD_in_four_neonates_with_decreased.pdfTest -
3دورية أكاديمية
المؤلفون: Welsink-Karssies, MM, Ferdinandusse, S, Geurtsen, GJ, Hollak, CEM, Huidekoper, Hidde, Janssen, M, Langendonk, Janneke, v.d. Lee, JH, O'Flaherty, R, Oostrom, KJ, Roosendaal, Stefan, Rubio-Gozalbo, ME, Saldova, R, Treacy, EP, Vaz, FM, de Vries, MC, Engelen, MP, Bosch, A
المصدر: Welsink-Karssies , MM , Ferdinandusse , S , Geurtsen , GJ , Hollak , CEM , Huidekoper , H , Janssen , M , Langendonk , J , v.d. Lee , JH , O'Flaherty , R , Oostrom , KJ , Roosendaal , S , Rubio-Gozalbo , ME , Saldova , R , Treacy , EP , Vaz , FM , de Vries , MC , Engelen , MP & Bosch , A 2020 , ' Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers ' , Brain Communications , vol. 2 , no. 1 , 06 . https://doi.org/10.1093/braincomms/fcaa006Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1093/braincomms/fcaa006Test
https://pure.eur.nl/en/publications/b1755696-3676-4fe8-82f6-4e174eea5c06Test
https://pure.eur.nl/ws/files/48382537/Repub_131392_O-A.pdfTest -
4دورية أكاديمية
المؤلفون: Welsink-Karssies, MM, van Harskamp, D, Ferdinandusse, S, Hollak, CEM, Huidekoper, Hidde, Janssen, MCH, Kemper, EM, Langendonk, Janneke, Rubio-Gozalbo, ME, de Vries, MC, Wijburg, FA, Schierbeek, H, Bosch, AM
المصدر: Welsink-Karssies , MM , van Harskamp , D , Ferdinandusse , S , Hollak , CEM , Huidekoper , H , Janssen , MCH , Kemper , EM , Langendonk , J , Rubio-Gozalbo , ME , de Vries , MC , Wijburg , FA , Schierbeek , H & Bosch , AM 2020 , ' The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 507-517 . https://doi.org/10.1002/jimd.12207Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jimd.12207Test
https://pure.eur.nl/en/publications/cf8b8908-4d15-4485-adc2-eb3ea8c6f988Test
https://pure.eur.nl/ws/files/48337409/Repub_128728_O-A.pdfTest -
5دورية أكاديمية
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 -
6دورية أكاديمية
المؤلفون: Welsink-Karssies, MM, Ferdinandusse, S, Geurtsen, GJ, Hollak, CEM, Huidekoper, Hidde, Janssen, M, Langendonk, Janneke, v.d. Lee, JH, O'Flaherty, R, Oostrom, KJ, Roosendaal, Stefan, Rubio-Gozalbo, ME, Saldova, R, Treacy, EP, Vaz, FM, de Vries, MC, Engelen, MP, Bosch, A
المصدر: Welsink-Karssies , MM , Ferdinandusse , S , Geurtsen , GJ , Hollak , CEM , Huidekoper , H , Janssen , M , Langendonk , J , v.d. Lee , JH , O'Flaherty , R , Oostrom , KJ , Roosendaal , S , Rubio-Gozalbo , ME , Saldova , R , Treacy , EP , Vaz , FM , de Vries , MC , Engelen , MP & Bosch , A 2020 , ' Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers ' , Brain Communications , vol. 2 , no. 1 , 06 . https://doi.org/10.1093/braincomms/fcaa006Test
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1093/braincomms/fcaa006Test
https://pure.eur.nl/en/publications/b1755696-3676-4fe8-82f6-4e174eea5c06Test
https://pure.eur.nl/ws/files/48382537/Repub_131392_O-A.pdfTest -
7دورية أكاديمية
المؤلفون: Welsink-Karssies, MM, van Harskamp, D, Ferdinandusse, S, Hollak, CEM, Huidekoper, Hidde, Janssen, MCH, Kemper, EM, Langendonk, Janneke, Rubio-Gozalbo, ME, de Vries, MC, Wijburg, FA, Schierbeek, H, Bosch, AM
المصدر: Welsink-Karssies , MM , van Harskamp , D , Ferdinandusse , S , Hollak , CEM , Huidekoper , H , Janssen , MCH , Kemper , EM , Langendonk , J , Rubio-Gozalbo , ME , de Vries , MC , Wijburg , FA , Schierbeek , H & Bosch , AM 2020 , ' The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 507-517 . https://doi.org/10.1002/jimd.12207Test
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jimd.12207Test
https://pure.eur.nl/en/publications/cf8b8908-4d15-4485-adc2-eb3ea8c6f988Test
https://pure.eur.nl/ws/files/48337409/Repub_128728_O-A.pdfTest -
8دورية أكاديمية
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
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 -
9دورية أكاديمية
المؤلفون: Welsink-Karssies, M.M., Ferdinandusse, S., Geurtsen, G.J., Hollak, C.E.M., Huidekoper, H.H., Janssen, M.C.H., Langendonk, J.G., van der Lee, J.H., O'Flaherty, R., Oostrom, K.J., Roosendaal, S.D., Rubio-Gozalbo, M.E., Saldova, R., Treacy, E.P., Vaz, F.M., de Vries, M.C., Engelen, M., Bosch, A.M.
المصدر: Welsink-Karssies , M M , Ferdinandusse , S , Geurtsen , G J , Hollak , C E M , Huidekoper , H H , Janssen , M C H , Langendonk , J G , van der Lee , J H , O'Flaherty , R , Oostrom , K J , Roosendaal , S D , Rubio-Gozalbo , M E , Saldova , R , Treacy , E P , Vaz , F M , de Vries , M C , Engelen , M & Bosch , A M 2020 , ' Deep phenotyping classical galactosemia: clinical outcomes ....
مصطلحات موضوعية: children, classical galactosemia, clinical outcome, galt deficiency, glycan, igg n-glycosylation, management, mri, prognostic biomarkers, verbal dyspraxia
الإتاحة: https://doi.org/10.1093/braincomms/fcaa006Test
https://cris.maastrichtuniversity.nl/en/publications/964c1443-969f-4b1d-8a86-c4ef50d60081Test -
10دورية أكاديمية
المؤلفون: Welsink-Karssies, M.M., van Harskamp, D., Ferdinandusse, S., Hollak, C.E.M., Huidekoper, H.H., Janssen, M.C.H., Kemper, E.M., Langendonk, J.G., Rubio-Gozalbo, M.E., de Vries, M.C., Wijburg, F.A., Schierbeek, H., Bosch, A.M.
المصدر: Welsink-Karssies , M M , van Harskamp , D , Ferdinandusse , S , Hollak , C E M , Huidekoper , H H , Janssen , M C H , Kemper , E M , Langendonk , J G , Rubio-Gozalbo , M E , de Vries , M C , Wijburg , F A , Schierbeek , H & Bosch , A M 2020 , ' The 1‐ 13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes ' , Journal of Inherited Metabolic Disease ....
مصطلحات موضوعية: (co2)-c-13, c-13, galactose oxidation, inborn error of metabolism, isotope ratio mass spectrometry, oxidation
الإتاحة: https://doi.org/10.1002/jimd.12207Test
https://cris.maastrichtuniversity.nl/en/publications/4161d576-4cc5-4c4e-9c9e-533ca2e4f35dTest
