Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

M.K. Bjursell; H.J. Blom; J.A. Cayuela; M.L. Engvall; N. Lesko; S. Balasubramaniam; G. Brandberg; M. Halldin; M. Falkenberg; C.A.J.M. Jakobs; D. Smith; E.A. Struys; U. von Dobeln; C. M. Gustafsson; J. Lundeberg; A. Wedell

doi:https://doi.org/10.1016/j.ajhg.2011.09.004

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

M.K. Bjursell, H.J. Blom, J.A. Cayuela, M.L. Engvall, N. Lesko, S. Balasubramaniam, G. Brandberg, M. Halldin, M. Falkenberg, C.A.J.M. Jakobs, D. Smith, E.A. Struys, U. von Dobeln, C. M. Gustafsson, J. Lundeberg, A. Wedell

Laboratory Medicine (VUmc)

Research output: Contribution to journal › Article › Academic › peer-review

76 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	507-515
Journal	American journal of human genetics
Volume	89
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2011.09.004
Publication status	Published - 2011

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https://doi.org/10.1016/j.ajhg.2011.09.004

Cite this

Bjursell, M. K., Blom, H. J., Cayuela, J. A., Engvall, M. L., Lesko, N., Balasubramaniam, S., Brandberg, G., Halldin, M., Falkenberg, M., Jakobs, C. A. J. M., Smith, D., Struys, E. A., von Dobeln, U., Gustafsson, C. M., Lundeberg, J., & Wedell, A. (2011). Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function. American journal of human genetics, 89(4), 507-515. https://doi.org/10.1016/j.ajhg.2011.09.004

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author = "M.K. Bjursell and H.J. Blom and J.A. Cayuela and M.L. Engvall and N. Lesko and S. Balasubramaniam and G. Brandberg and M. Halldin and M. Falkenberg and C.A.J.M. Jakobs and D. Smith and E.A. Struys and {von Dobeln}, U. and Gustafsson, {C. M.} and J. Lundeberg and A. Wedell",

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Bjursell, MK, Blom, HJ, Cayuela, JA, Engvall, ML, Lesko, N, Balasubramaniam, S, Brandberg, G, Halldin, M, Falkenberg, M, Jakobs, CAJM, Smith, D, Struys, EA, von Dobeln, U, Gustafsson, CM, Lundeberg, J & Wedell, A 2011, 'Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function', American journal of human genetics, vol. 89, no. 4, pp. 507-515. https://doi.org/10.1016/j.ajhg.2011.09.004

TY - JOUR

T1 - Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

AU - Bjursell, M.K.

AU - Blom, H.J.

AU - Cayuela, J.A.

AU - Engvall, M.L.

AU - Lesko, N.

AU - Balasubramaniam, S.

AU - Brandberg, G.

AU - Halldin, M.

AU - Falkenberg, M.

AU - Jakobs, C.A.J.M.

AU - Smith, D.

AU - Struys, E.A.

AU - von Dobeln, U.

AU - Gustafsson, C. M.

AU - Lundeberg, J.

AU - Wedell, A.

PY - 2011

Y1 - 2011

U2 - https://doi.org/10.1016/j.ajhg.2011.09.004

DO - https://doi.org/10.1016/j.ajhg.2011.09.004

M3 - Article

C2 - 21963049

SN - 0002-9297

VL - 89

SP - 507

EP - 515

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -