Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease

S. Mercimek-Mahmutoglu, G. Sinclair, S.J.M. van Dooren, W. Kanhai, P. Ashcraft, O.J. Michel, J. Nelson, O.T. Betsalel, L. Sweetman, C.A.J.M. Jakobs, G.S. Salomons

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)433-437
JournalMolecular Genetics and Metabolism
Volume107
Issue number3
DOIs
Publication statusPublished - 2012

Cite this

Mercimek-Mahmutoglu, S. ; Sinclair, G. ; van Dooren, S.J.M. ; Kanhai, W. ; Ashcraft, P. ; Michel, O.J. ; Nelson, J. ; Betsalel, O.T. ; Sweetman, L. ; Jakobs, C.A.J.M. ; Salomons, G.S. / Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease. In: Molecular Genetics and Metabolism. 2012 ; Vol. 107, No. 3. pp. 433-437.
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title = "Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease",
author = "S. Mercimek-Mahmutoglu and G. Sinclair and {van Dooren}, S.J.M. and W. Kanhai and P. Ashcraft and O.J. Michel and J. Nelson and O.T. Betsalel and L. Sweetman and C.A.J.M. Jakobs and G.S. Salomons",
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Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease. / Mercimek-Mahmutoglu, S.; Sinclair, G.; van Dooren, S.J.M.; Kanhai, W.; Ashcraft, P.; Michel, O.J.; Nelson, J.; Betsalel, O.T.; Sweetman, L.; Jakobs, C.A.J.M.; Salomons, G.S.

In: Molecular Genetics and Metabolism, Vol. 107, No. 3, 2012, p. 433-437.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Guanidinoacetate methyltransferase deficiency: First steps to newborn screening for a treatable neurometabolic disease

AU - Mercimek-Mahmutoglu, S.

AU - Sinclair, G.

AU - van Dooren, S.J.M.

AU - Kanhai, W.

AU - Ashcraft, P.

AU - Michel, O.J.

AU - Nelson, J.

AU - Betsalel, O.T.

AU - Sweetman, L.

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

AU - Salomons, G.S.

PY - 2012

Y1 - 2012

U2 - 10.1016/j.ymgme.2012.07.022

DO - 10.1016/j.ymgme.2012.07.022

M3 - Article

VL - 107

SP - 433

EP - 437

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 3

ER -