المؤلفون: Nota, B., Struys, E.A., Pop, A., Jansen, E.E., Ojeda, M.R.F., Kanhai, W.A., Kranendijk, M., van Dooren, S.J.M., Bevova, M.R., Sistermans, E.A., Nieuwint, A.W.M., Barth, M., Ben-Omran, T., Hoffmann, G.F., de Lonlay, P., McDonald, M.T., Meberg, A., Muntau, A.C., Nuoffer, J.M., Parini, R., Read, M.H., Renneberg, A., Santer, R., Strahleck, T., van Schaftingen, E., van der Knaap, M.S., Jakobs, C.A.J.M., Salomons, G.S.

المصدر: Nota , B , Struys , E A , Pop , A , Jansen , E E , Ojeda , M R F , Kanhai , W A , Kranendijk , M , van Dooren , S J M , Bevova , M R , Sistermans , E A , Nieuwint , A W M , Barth , M , Ben-Omran , T , Hoffmann , G F , de Lonlay , P , McDonald , M T , Meberg , A , Muntau , A C , Nuoffer , J M , Parini , R , Read , ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://research.vu.nl/en/publications/e1c10706-1cd4-4dd4-9aad-4325de0a3ae7Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.03.009Test
https://research.vu.nl/en/publications/e1c10706-1cd4-4dd4-9aad-4325de0a3ae7Test
https://hdl.handle.net/1871.1/e1c10706-1cd4-4dd4-9aad-4325de0a3ae7Test

المؤلفون: van de Kamp, J.M., Pouwels, P.J.W., Aarsen, F.K., Hoopen, L.W., Knol, D.L., de Klerk, J.B., de Coo, I.F., Huijmans, J.G., Jakobs, C.A.J.M., van der Knaap, M.S., Salomons, G.S., Mancini, G.M.

المصدر: van de Kamp , J M , Pouwels , P J W , Aarsen , F K , Hoopen , L W , Knol , D L , de Klerk , J B , de Coo , I F , Huijmans , J G , Jakobs , C A J M , van der Knaap , M S , Salomons , G S & Mancini , G M 2012 , ' Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect ' , Journal of Inherited Metabolic Disease , vol. 35 , no. 1 , pp. 141-149 ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://research.vu.nl/en/publications/2d629461-02f2-4f26-af49-e6f486ddb568Test

الإتاحة: https://doi.org/10.1007/s10545-011-9345-1Test
https://research.vu.nl/en/publications/2d629461-02f2-4f26-af49-e6f486ddb568Test

المؤلفون: Kranendijk, M., Struijs, E.A., Salomons, G.S., van der Knaap, M.S., Jakobs, C.A.J.M.

المصدر: Kranendijk , M , Struijs , E A , Salomons , G S , van der Knaap , M S & Jakobs , C A J M 2012 , ' Progress in understanding 2-hydroxyglutaric acidurias ' , Journal of Inherited Metabolic Disease , vol. 35 , no. 4 , pp. 571-587 . https://doi.org/10.1007/s10545-012-9462-5Test

العلاقة: https://research.vu.nl/en/publications/2ff84b70-4756-4c80-906f-c4d14488f2e0Test

الإتاحة: https://doi.org/10.1007/s10545-012-9462-5Test
https://research.vu.nl/en/publications/2ff84b70-4756-4c80-906f-c4d14488f2e0Test

المؤلفون: Engqvist, M.K.M., Kuhn, A., Wienstroer, J., Weber, K., Jansen, E.E.W., Jakobs, C.A.J.M., Weber, A.P.M., Maurino, V.G.

المصدر: Engqvist , M K M , Kuhn , A , Wienstroer , J , Weber , K , Jansen , E E W , Jakobs , C A J M , Weber , A P M & Maurino , V G 2011 , ' Plant D-2-Hydroxyglutarate Dehydrogenase Participates in the Catabolism of Lysine Especially during Senescence ' , Journal of Biological Chemistry , vol. 286 , no. 13 , pp. 11382-11390 . https://doi.org/10.1074/jbc.M110.194175Test

وصف الملف: application/pdf

العلاقة: https://research.vumc.nl/en/publications/aba2c7ff-3212-4f7f-a960-12e215db6e5bTest

الإتاحة: https://doi.org/10.1074/jbc.M110.194175Test
https://research.vumc.nl/en/publications/aba2c7ff-3212-4f7f-a960-12e215db6e5bTest
https://research.vumc.nl/ws/files/874823/282684.pdfTest

المؤلفون: Jakobs, C.A.J.M.

المصدر: Jakobs , C A J M 2011 , ' Introduction to the komrower memorial lecture 2010 ' , Journal of Inherited Metabolic Disease , vol. 34 , no. 3 , pp. 559-560 . https://doi.org/10.1007/s10545-011-9327-3Test , https://doi.org/10.1007/s10545-011-9327-3Test

وصف الملف: application/pdf

العلاقة: https://research.vumc.nl/en/publications/fe135280-828c-4073-9e4f-4f9f6bab5514Test

الإتاحة: https://doi.org/10.1007/s10545-011-9327-3Test
https://research.vumc.nl/en/publications/fe135280-828c-4073-9e4f-4f9f6bab5514Test
https://research.vumc.nl/ws/files/879075/282337.pdfTest
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85040704690&origin=inwardTest

المؤلفون: Pervaiz, M.A., Patterson, M.C., Struys, E.A., Salomons, G.S., Jakobs, C.A.J.M., Oglesbee, D., Kirmani, S.

المصدر: Pervaiz , M A , Patterson , M C , Struys , E A , Salomons , G S , Jakobs , C A J M , Oglesbee , D & Kirmani , S 2011 , ' Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria ' , Journal of Neurology , vol. 258 , no. 8 , pp. 1564-1565 . https://doi.org/10.1007/s00415-011-5977-1Test

وصف الملف: application/pdf

العلاقة: https://research.vumc.nl/en/publications/a01c9f7c-6169-4c34-a2d2-92395e27c467Test

الإتاحة: https://doi.org/10.1007/s00415-011-5977-1Test
https://research.vumc.nl/en/publications/a01c9f7c-6169-4c34-a2d2-92395e27c467Test
https://research.vumc.nl/ws/files/802199/281786.pdfTest

المؤلفون: Jansen, E.E.W., Struys, E., Jakobs, C.A.J.M., Hager, E., Snead, C., Gibson, K.M.

المصدر: Jansen , E E W , Struys , E , Jakobs , C A J M , Hager , E , Snead , C & Gibson , K M 2008 , ' Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development ' , BMC Developmental Biology , vol. 8 , no. 1 , pp. 112 . https://doi.org/10.1186/1471-213X-8-112Test

وصف الملف: application/pdf

العلاقة: https://research.vumc.nl/en/publications/e4e1d41c-252f-45d9-b90e-7aeaa2767707Test

الإتاحة: https://doi.org/10.1186/1471-213X-8-112Test
https://research.vumc.nl/en/publications/e4e1d41c-252f-45d9-b90e-7aeaa2767707Test
https://research.vumc.nl/ws/files/834378/288151.pdfTest

المؤلفون: Been, J.V., Bok, L.A., Willemsen, M.A.A.P., Struijs, E.A., Jakobs, C.A.J.M.

المصدر: Been , J V , Bok , L A , Willemsen , M A A P , Struijs , E A & Jakobs , C A J M 2008 , ' Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures ' , Arquivos de neuro-psiquiatria , vol. 66 , no. 2A , pp. 288-289 . https://doi.org/10.1590/S0004-282X2008000200035Test

وصف الملف: application/pdf

العلاقة: https://research.vumc.nl/en/publications/d27a796a-276e-4fa1-9809-6037fc5d36ddTest

الإتاحة: https://doi.org/10.1590/S0004-282X2008000200035Test
https://research.vumc.nl/en/publications/d27a796a-276e-4fa1-9809-6037fc5d36ddTest
https://research.vumc.nl/ws/files/832179/288080.pdfTest

المؤلفون: Struys, E.A., Salomons, G.S., Achouri, Y., van Schaftingen, E., Grosso, S., Craigen, W.J., Verhoeven, N.M., Jakobs, C.A.J.M.

المصدر: Struys , E A , Salomons , G S , Achouri , Y , van Schaftingen , E , Grosso , S , Craigen , W J , Verhoeven , N M & Jakobs , C A J M 2005 , ' Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria ' , American journal of human genetics , vol. 76 , no. 2 , pp. 358-360 . https://doi.org/10.1086/427890Test

العلاقة: https://research.vumc.nl/en/publications/f93bc11f-1a37-4b12-a555-7d455c6da9bdTest

الإتاحة: https://doi.org/10.1086/427890Test
https://research.vumc.nl/en/publications/f93bc11f-1a37-4b12-a555-7d455c6da9bdTest

المؤلفون: Struys, E.A., Verhoeven, N.M., ten Brink, H.J., Wickenhagen, W.V., Gibson, K.M., Jakobs, C.A.J.M.

المصدر: Struys , E A , Verhoeven , N M , ten Brink , H J , Wickenhagen , W V , Gibson , K M & Jakobs , C A J M 2005 , ' Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: Relevance toD: -2-hydroxyglutaric and gamma-hydroxybutyric acidurias ' , Journal of Inherited Metabolic Disease , vol. 28 , no. 6 , pp. 921-930 . https://doi.org/10.1007/s10545-005-0114-xTest

العلاقة: https://research.vumc.nl/en/publications/d0c28008-7758-48a0-85ec-686005e4ed7dTest

الإتاحة: https://doi.org/10.1007/s10545-005-0114-xTest
https://research.vumc.nl/en/publications/d0c28008-7758-48a0-85ec-686005e4ed7dTest