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Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.
van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. van Karnebeek CD, et al. Eur J Hum Genet. 2005 Jan;13(1):6-25. doi: 10.1038/sj.ejhg.5201279. Eur J Hum Genet. 2005. PMID: 15523501 Review.
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Stockler S, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24. Mol Genet Metab. 2011. PMID: 21704546 Review.
The treatable intellectual disability APP a digital tool to enhance diagnosis & care for rare diseases.
van Karnebeek CD, Houben RF, Lafek M, Giannasi W, Stockler S. van Karnebeek CD, et al. Orphanet J Rare Dis. 2012 Jul 23;7:47. doi: 10.1186/1750-1172-7-47. Orphanet J Rare Dis. 2012. PMID: 22824307 Free PMC article.
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. van Karnebeek CD, et al. Mol Genet Metab. 2012 Nov;107(3):335-44. doi: 10.1016/j.ymgme.2012.09.006. Epub 2012 Sep 10. Mol Genet Metab. 2012. PMID: 23022070 Clinical Trial.
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Ara├║jo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. Stockler-Ipsiroglu S, et al. Mol Genet Metab. 2014 Jan;111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7. Mol Genet Metab. 2014. PMID: 24268530
Treatable inborn errors of metabolism causing neurological symptoms in adults.
Sirrs SM, Lehman A, Stockler S, van Karnebeek CD. Sirrs SM, et al. Mol Genet Metab. 2013 Dec;110(4):431-8. doi: 10.1016/j.ymgme.2013.10.002. Mol Genet Metab. 2013. PMID: 24427801 Review.
The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.
van Karnebeek CD, Shevell M, Zschocke J, Moeschler JB, Stockler S. van Karnebeek CD, et al. Mol Genet Metab. 2014 Apr;111(4):428-38. doi: 10.1016/j.ymgme.2014.01.011. Epub 2014 Jan 24. Mol Genet Metab. 2014. PMID: 24518794 Review.
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S. van Karnebeek CD, et al. Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13. Am J Hum Genet. 2014. PMID: 24530203 Free PMC article.
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