K. T. Verbruggen

发表

Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology.

P. Sijens, A. Schulze, C. Jakobs, 2007, Molecular genetics and metabolism.

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

N. Longo, C. V. van Karnebeek, B. Maranda, 2014, Molecular genetics and metabolism.

1H MR spectroscopy of the brain in Cr transporter defect.

M. Oudkerk, P. Sijens, F. V. van Spronsen, 2005, Molecular genetics and metabolism.

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation

P. Sijens, N. Verhoeven, G. Salomons, 2007, European Journal of Pediatrics.

1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter

M. Oudkerk, L. Meiners, P. Sijens, 2005, European Radiology.

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

J. Schuurs-Hoeijmakers, R. Pfundt, P. Lapunzina, 2009, European journal of medical genetics.

A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome)

P. Rump, O. Brouwer, R. Hordijk, 2011, Clinical genetics.

Quantitative multivoxel proton spectroscopy of the brain in developmental delay

N. Maurits, L. Meiners, P. Sijens, 2009, Journal of magnetic resonance imaging : JMRI.

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

K. Kok, C. V. van Ravenswaaij-Arts, M. Breuning, 2009, European journal of medical genetics.

Diagnostic evaluation of developmental delay

Krijn Teunis Verbruggen, K. T. Verbruggen, 2011 .

Diagnostic evaluation of developmental delay

K. T. Verbruggen, 2011 .

Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay.

Paul E Sijens, L. Meiners, P. Sijens, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Yair Anikster, H. Kayserili, Y. Anikster, 2017, Human mutation.

[A girl with hereditary myotonia due to an exceptional sodium channel mutation].

H. Ginjaar, K. T. Verbruggen, J. C. van den Bergen, 2006, Nederlandsch tijdschrift voor geneeskunde.

Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay.

L. Meiners, P. Sijens, O. Brouwer, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.