Cornelis Jakobs

Research output

Research output per year 1996 2005 2008 2009 2010 2011 2012 2013 2018

• 189 Article
• 11 Chapter
• 2 Comment/Letter to the editor
• 1 Editorial
• 2 More
  • 1 Letter
  • 1 Review article

Research output per year

Research output per year

Search results

• 2018

  Severe lactic acidosis associated with a suspected succinic semialdehyde dehydrogenase (SSADH) deficiency in a young Chihuahua dog

  Kelmer, E., Gibson, K. M., Jakobs, C., Struys, E., Shelton, G. D., Aroch, I. & O’Brien, D. P., 2018, In: Israel Journal of Veterinary Medicine. 73, 2, p. 43-48

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

  1 Citation (Scopus)
• 2017

  Experimental evidence of oxidative stress in patients with L-2-hydroxyglutaric aciduria and that L-carnitine attenuates in vitro DNA damage caused by D-2-hydroxyglutaric and L-2-hydroxyglutaric acids

  Rodrigues, D. G. B., de Moura Coelho, D., Sitta, Â., Jacques, C. E. D., Hauschild, T., Manfredini, V., Bakkali, A., Struys, E. A., Jakobs, C., Wajner, M. & Vargas, C. R., 1 Aug 2017, In: Toxicology in Vitro. 42, p. 47-53 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  20 Citations (Scopus)
• 2015

  Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood

  Lapalme-Remis, S., Lewis, E. C., De Meulemeester, C., Chakraborty, P., Gibson, K. M., Torres, C., Guberman, A., Salomons, G., Jakobs, C., Ali-Ridha, A., Parviz, M. & Pearl, P. L., 2015, In: Neurology. 85, 10, p. 861-865

  Research output: Contribution to journal › Article › Academic › peer-review
  41 Citations (Scopus)
• 2014

  Cloning and characterization of the promoter regions from the parent and paralogobs creatine transporter genes

  Ndika, J. D. T., Lusink, V., Beaubrun, C., Kanhai, W., Martinez-Munoz, C., Jakobs, C. A. J. M. & Salomons, G. S., 2014, In: Gene. 533, 2, p. 488-493

  Research output: Contribution to journal › Article › Academic › peer-review
  4 Citations (Scopus)

• Novel association of early onset hepatocellular carcinoma with transaldolase deficiency

  Leduc, C. A., Crouch, E. E., Wilson, A., Lefkowitch, J., Wamelink, M. M. C., Jakobs, C. A. J. M., Salomons, G. S., Sun, X., Shen, Y. & Chung, W. K., 2014, In: JIMD reports. 12, p. 121-127

  Research output: Contribution to journal › Article › Academic › peer-review
  6 Citations (Scopus)

• Post-transcriptional regulation of the creatine transporter gene: Functional relevance of alternative splicing

  Ndika, J. D. T., Martinez-Munoz, C., Anand, N., van Dooren, S. J. M., Kanhai, W., Smith, D. E. C., Jakobs, C. A. J. M. & Salomons, G. S., 2014, In: Biochimica et Biophysica Acta (BBA) - General Subjects. 1840, 6, p. 2070-2079

  Research output: Contribution to journal › Article › Academic › peer-review
  7 Citations (Scopus)
• 2013

  Bile Acid Precursors Compete with very Long Chain Fatty Acids for Translocation into Peroxisomes

  Gan-Schreier, H., Haas, D., Langhans, K. D., Sauer, S. W., Kohlmüller, D., ten Brink, H. J., Werner, H. B., Arve, K. A., Jakobs, C. A. J. M., Hoffmann, G. F., Völkl, A. & Okun, J. G., 2013, In: Journal of Gastroenterology and Hepatology Research. 2, 1, p. 362-366

  Research output: Contribution to journal › Article › Academic

• D-2-hydroxyglutarate metabolism is linked to photorespiration in the shm1-1 mutant

  Kuhn, A., Engqvist, M. K. M., Jansen, E. E., Weber, A. P. M., Jakobs, C. A. J. M. & Maurino, V. G., 2013, In: Plant Biology. 15, 4, p. 776-784

  Research output: Contribution to journal › Article › Academic › peer-review
  17 Citations (Scopus)

• Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria

  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., & 8 othersRead, M. H., Renneberg, A., Santer, R., Strahleck, T., van Schaftingen, E., van der Knaap, M. S., Jakobs, C. A. J. M. & Salomons, G. S., 2013, In: American journal of human genetics. 92, 4, p. 627-631

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

  Open Access
  113 Citations (Scopus)

• Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)

  Spilioti, M., Evangeliou, A. E., Tramma, D., Theodoridou, Z., Metaxas, S., Michailidi, E., Bonti, E., Frysira, H., Haidopoulou, A., Asprangathou, D., Tsalkidis, A. J., Kardaras, P., Wevers, R. A., Jakobs, C. A. J. M. & Gibson, K. M., 2013, In: Frontiers in human neuroscience. 7, p. 858

  Research output: Contribution to journal › Article › Academic › peer-review
  52 Citations (Scopus)

• Homocysteine-induced apoptosis in endothelial cells coincides with nuclear NOX2 and peri-nuclear NOX4 activity

  Sipkens, J. A., Hahn, N. E., van den Brand, C. S., Meischl, C., Cillessen, S. A. G. M., Smith, D. E. C., Juffermans, L. J. M., Musters, R. J. P., Roos, D., Jakobs, C., Blom, H. J., Smulders, Y. M., Krijnen, P. A. J., Stehouwer, C. D. A., Rauwerda, J. A., van Hinsbergh, V. W. M. & Niessen, H. W. M., Nov 2013, In: Cell Biochemistry and Biophysics. 67, 2, p. 341-352 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  54 Citations (Scopus)

• Metabolic syndrome components are associated with DNA hypomethylation

  Luttmer, R., Spijkerman, A. M., Kok, R. M., Jakobs, C. A. J. M., Blom, H. J., Serne, E. H., Dekker, J. M. & Smulders, Y. M., 2013, In: Obesity research & clinical practice. 7, 2, p. E106-E115

  Research output: Contribution to journal › Article › Academic › peer-review
  55 Citations (Scopus)

• Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency

  Sarper, N., Zengin, E., Jakobs, C. A. J. M., Salomons, G. S., Wamelink, M. M. C., Ralser, M., Kurt, K. & Kara, B., 2013, In: Turkish journal of pediatrics. 55, 2, p. 198-202

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

  10 Citations (Scopus)

• New insights into creatine transporter deficiency: the importance of recycling creatine in the brain

  van de Kamp, J. M., Jakobs, C. A. J. M., Gibson, K. M. & Salomons, G. S., 2013, In: Journal of Inherited Metabolic Disease. 36, 1, p. 155-156

  Research output: Contribution to journal › Article › Academic › peer-review
  25 Citations (Scopus)

• Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

  Nota, B., Hamilton, E. M. C., Sie, D. L. S., Ozturk, S., van Dooren, S. J. M., Ojeda, M. R. F., Jakobs, C. A. J. M., Christensen, E., Kirk, E. P., Sykut-Cegielska, J., Lund, A. M., van der Knaap, M. S. & Salomons, G. S., 2013, In: Journal of medical genetics. 50, 11, p. 754-759

  Research output: Contribution to journal › Article › Academic › peer-review
  20 Citations (Scopus)

• Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

  van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grunewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., Kleefstra, T., Yntema, H., Campistol, J., Vilaseca, M. A., Cheillan, D., D'Hooghe, M., Diogo, L., Garcia, P., Valongo, C., Fonseca, M., & 40 othersFrints, S., Wilcken, B., Haar, S., Meijers-Heijboer, H. E., Hofstede, F., Johnson, D., Kant, S. G., Lion-Francois, L., Pitelet, G., Longo, N., Maat-Kievit, J. A., Monteiro, J. P., Munnich, A., Muntau, A. C., Nassogne, M. C., Osaka, H., Ounap, K., Pinard, J. M., Quijano-Roy, S., Poggenburg, I., Poplawski, N., Abdul-Rahman, O. A., Ribes, A., Arias, A., Yaplito-Lee, J., Schulze, A., Schwartz, C. E., Schwenger, S., Soares, G., Sznajer, Y., Valayannopoulos, V., Van Esch, H., Waltz, S., Wamelink, M. M. C., Pouwels, P. J. W., Errami, A., van der Knaap, M. S., Jakobs, C. A. J. M., Mancini, G. M. & Salomons, G. S., 2013, In: Journal of medical genetics. 50, 7, p. 463-472

  Research output: Contribution to journal › Article › Academic › peer-review
  106 Citations (Scopus)

• Plasma choline and betaine correlate with serum folate, plasma S-adenosyl-methionine and S-adenosyl-homocysteine in healthy volunteers

  Imbard, A., Smulders, Y. M., Barto, R., Smith, D. E. C., Kok, R. M., Jakobs, C. A. J. M. & Blom, H. J., 2013, In: Clinical chemistry and laboratory medicine. 51, 3, p. 683-692

  Research output: Contribution to journal › Article › Academic › peer-review
  22 Citations (Scopus)

• Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome

  Oliveira, R., Pereira, C., Rodrigues, F., Alfaite, C., Garcia, P., Robalo, C., Fineza, I., Goncalves, O., Struys, E. A., Salomons, G. S., Jakobs, C. A. J. M. & Diogo, L., 2013, In: Epileptic Disorders. 15, 4, p. 400-406

  Research output: Contribution to journal › Article › Academic › peer-review
  16 Citations (Scopus)

• Thirty years beyond discovery-Clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

  Vogel, K. R., Pearl, P. L., Theodore, W. H., McCarter, R. C., Jakobs, C. A. J. M. & Gibson, K. M., 2013, In: Journal of Inherited Metabolic Disease. 36, 3, p. 401-410

  Research output: Contribution to journal › Article › Academic › peer-review
  49 Citations (Scopus)

• Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

  Eyaid, W., Al Harbi, T., Anazi, S., Wamelink, M. M. C., Jakobs, C. A. J. M., Al Salammah, M., Al Balwi, M., Alfadhel, M. & Alkuraya, F., 2013, In: Journal of Inherited Metabolic Disease. 36, 6, p. 997-1004

  Research output: Contribution to journal › Article › Academic › peer-review
  28 Citations (Scopus)
• 2012

  Asymmetric dimethylarginine in adults with cystathionine beta-synthase deficiency

  Rocha, M. S., Teerlink, T., Janssen, M. C. H., Kluijtmans, L. A. J., Smulders, Y. M., Jakobs, C. A. J. M., de Almeida, I. T., Rivera, I., Castro, R. & Blom, H. J., 2012, In: Atherosclerosis. 222, 2, p. 509-511

  Research output: Contribution to journal › Article › Academic › peer-review
  8 Citations (Scopus)

• Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1

  Milh, M., Pop, A., Kanhai, W., Villeneuve, N., Cano, A., Struijs, E. A., Salomons, G. S., Chabrol, B. & Jakobs, C. A. J. M., 2012, In: Molecular Genetics and Metabolism. 105, 4, p. 684-686

  Research output: Contribution to journal › Article › Academic › peer-review
  8 Citations (Scopus)

• Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells

  Barroso, M., Rocha, M. S., Esse, R., Goncalves, I., Gomes, A. Q., Teerlink, T., Jakobs, C. A. J. M., Blom, H. J., Loscalzo, J., Rivera, I., de Almeida, I. T. & Castro, R., 2012, In: Amino acids. 42, 5, p. 1903-1911

  Research output: Contribution to journal › Article › Academic › peer-review
  15 Citations (Scopus)

• Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

  Osaka, H., Takagi, A., Tsuyusaki, Y., Wada, T., Lai, M., Yamashita, S., Shimbo, H., Saitsu, H., Salomons, G. S., Jakobs, C. A. J. M., Aida, N., Toshihiro, S., Kuhara, T. & Matsumoto, N., 2012, In: Molecular Genetics and Metabolism. 106, 1, p. 43-47

  Research output: Contribution to journal › Article › Academic › peer-review
  29 Citations (Scopus)

• Defecten in de pentose fosfaat route

  Wamelink, M. M. C., Struijs, E. A., Salomons, G. S. & Jakobs, C. A. J. M., 2012, In: Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde. 37, 1, p. 71-73

  Research output: Contribution to journal › Article › Professional

• Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

  Betsalel, O. T., Pop, A., Rosenberg, E. H., Fernandez-Ojeda, M., Jakobs, C. A. J. M. & Salomons, G. S., 2012, In: Molecular Genetics and Metabolism. 105, 4, p. 596-601

  Research output: Contribution to journal › Article › Academic › peer-review
  29 Citations (Scopus)

• Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency

  Ndika, J. D. T., Johnston, K., Barkovich, J. A., Wirt, M. D., O'Neill, P., Betsalel, O. T., Jakobs, C. A. J. M. & Salomons, G. S., 2012, In: Molecular Genetics and Metabolism. 106, 1, p. 48-54

  Research output: Contribution to journal › Article › Academic › peer-review
  28 Citations (Scopus)

• Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency

  Casarano, M., Alessandri, M. G., Salomons, G. S., Moretti, E., Jakobs, C. A. J. M., Gibson, C., Cioni, G. & Battini, R., 2012, In: JIMD reports. 2012, 2, p. 119-123

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

  14 Citations (Scopus)

• Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

  Mercimek-Mahmutoglu, S., Dunbar, M., Friesen, A., Garret, S., Hartnett, C., Huh, L., Sinclair, G., Stockler, S., Wellington, S., Pouwels, P. J. W., Salomons, G. S. & Jakobs, C. A. J. M., 2012, In: Molecular Genetics and Metabolism. 105, 1, p. 155-158

  Research output: Contribution to journal › Article › Academic › peer-review
  18 Citations (Scopus)

• 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., 2012, In: Molecular Genetics and Metabolism. 107, 3, p. 433-437

  Research output: Contribution to journal › Article › Academic › peer-review
  24 Citations (Scopus)

• L-2-hydroxyglutaric Aciduria in Two Female Yorkshire Terriers

  Sanchez-Masian, D. F., Artuch, R., Mascort, J., Jakobs, C. A. J. M., Salomons, G. S., Zamora, A., Casado, M., Fernandez, M., Recio, A. & Lujan, A., 2012, In: Journal of the American Animal Hospital Association. 48, 5, p. 366-371

  Research output: Contribution to journal › Article › Academic › peer-review
  17 Citations (Scopus)

• Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

  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, In: Journal of Inherited Metabolic Disease. 35, 1, p. 141-149

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

  Open Access
  46 Citations (Scopus)

• Long-term outcome in pyridoxine-dependent epilepsy

  Bok, L. A., Halbertsma, F. J., Houterman, S., Wevers, R. A., Vreeswijk, C., Jakobs, C. A. J. M., Struijs, E. A., van der Hoeven, J. H., Sival, D. A. & Willemsen, M. A., 2012, In: Developmental Medicine and Child Neurology. 54, 9, p. 849-854

  Research output: Contribution to journal › Article › Academic › peer-review
  81 Citations (Scopus)

• Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

  van Karnebeek, C. D. M., Hartmann, H., Jaggumantri, S., Bok, L. A., Cheng, B., Connolly, M., Coughlin, C. R., Das, A. M., Gospe, S. M., Jakobs, C., van der Lee, J. H., Mercimek-Mahmutoglu, S., Meyer, U., Struys, E., Sinclair, G., van Hove, J., Collet, J-P., Plecko, B. R., Stockler, S., Struijs, E. A., & 1 othersten Hove, J., 2012, In: Molecular Genetics and Metabolism. 107, 3, p. 335-344

  Research output: Contribution to journal › Article › Academic › peer-review
  84 Citations (Scopus)

• Nephrological abnormalities in patients with transaldolase deficiency

  Loeffen, Y. G. T., Biebuyck, N., Wamelink, M. M. C., Jakobs, C. A. J. M., Mulder, M. F., Tylki-Szymanska, A., Fung, C. W., Valayannopoulos, V. & Bokenkamp, A., 2012, In: Nephrology, dialysis, transplantation. 27, 8, p. 3224-3227

  Research output: Contribution to journal › Article › Academic › peer-review
  14 Citations (Scopus)

• Profound Neonatal Hypoglycemia and Lactic Acidosis Caused by Pyridoxine-Dependent Epilepsy

  Mercimek-Mahmutoglu, S., Horvath, G. A., Coulter-Mackie, M., Nelson, T., Waters, P. J., Sargent, M., Struijs, E. A., Jakobs, C. A. J. M., Stockler-Ipsiroglu, S. & Connolly, M. B., 2012, In: Pediatrics. 129, 5, p. E1368-E1372

  Research output: Contribution to journal › Article › Academic › peer-review
  25 Citations (Scopus)

• Progress in understanding 2-hydroxyglutaric acidurias

  Kranendijk, M., Struys, E. A., Salomons, G. S., van der Knaap, M. S., Jakobs, C. & Struijs, E. A., 2012, In: Journal of Inherited Metabolic Disease. 35, 4, p. 571-587

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

  Open Access
  217 Citations (Scopus)

• Pyridoxine afhankelijke epilepsie

  Struijs, E. A., Salomons, G. S. & Jakobs, C. A. J. M., 2012, In: Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde. 37, 1, p. 63-64

  Research output: Contribution to journal › Article › Professional

• The measurement of urinary Delta(1)-piperideine-6-carboxylate, the alter ego of alpha-aminoadipic semialdehyde, in Antiquitin deficiency

  Struijs, E. A., Bok, L. A., Emal, D., Houterman, S., Willemsen, M. A. & Jakobs, C. A. J. M., 2012, In: Journal of Inherited Metabolic Disease. 35, 5, p. 909-916

  Research output: Contribution to journal › Article › Academic › peer-review
  31 Citations (Scopus)

• Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

  Valayannopoulos, V., Boddaert, N., Chabli, A., Barbier, V., Desguerre, I., Philippe, A., Afenjar, A., Mazzuca, M., Cheillan, D., Munnich, A., de Keyzer, Y., Jakobs, C. A. J. M., Salomons, G. S. & de Lonlay, P., 2012, In: Journal of Inherited Metabolic Disease. 35, 1, p. 151-157

  Research output: Contribution to journal › Article › Academic › peer-review
  56 Citations (Scopus)

• Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency

  Mills, P. B., Footitt, E. J., Ceyhan, S., Waters, P. J., Jakobs, C. A. J. M., Clayton, P. T. & Struijs, E. A., 2012, In: Journal of Inherited Metabolic Disease. 35, 6, p. 1031-1036

  Research output: Contribution to journal › Article › Academic › peer-review
  37 Citations (Scopus)
• 2011

  4-Hydroxybutyric aciduria associated with catheter usage: A diagnostic pitfall in the identification of SSADH deficiency

  Wamelink, M. M. C., Roos, B., Jansen, E. E. W., Mulder, M. F., Gibson, K. M. & Jakobs, C. A. J. M., 2011, In: Molecular Genetics and Metabolism. 102, 2, p. 216-217

  Research output: Contribution to journal › Article › Academic › peer-review
  6 Citations (Scopus)

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

  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, In: American journal of human genetics. 89, 4, p. 507-515

  Research output: Contribution to journal › Article › Academic › peer-review
  91 Citations (Scopus)

• A lymphoblast model for IDH2 gain-of-function activity in D-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies

  Kranendijk, M., Salomons, G. S., Gibson, K. M., van Schaftingen, E., Jakobs, C. A. J. M. & Struys, E. A., 2011, In: Biochimica et Biophysica Acta. Molecular Basis of Disease. 1812, 11, p. 1380-1384

  Research output: Contribution to journal › Article › Academic › peer-review
  14 Citations (Scopus)

• Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration

  Peters, V., Jansen, E. E. W., Jakobs, C. A. J. M., Riedl, E., Janssen, B., Yard, B. A., Wedel, J., Hoffmann, G. F., Zschocke, J., Gotthardt, D., Fischer, C. & Koppel, H., 2011, In: Clinica Chimica Acta. 412, 3-4, p. 263-267

  Research output: Contribution to journal › Article › Academic › peer-review
  48 Citations (Scopus)

• Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

  Betsalel, O. T., Rosenberg, E. H., Almeida, L. S., Kleefstra, T., Schwartz, C. E., Valayannopoulos, V., Abdul-Rahman, O. A., Poplawski, N., Vilarinho, L., Wolf, P., den Dunnen, J. T., Jakobs, C. A. J. M. & Salomons, G. S., 2011, In: European journal of human genetics. 19, 1, p. 56-63

  Research output: Contribution to journal › Article › Academic › peer-review
  19 Citations (Scopus)

• Clinical features and X-inactivation in females heterozygous for creatine transporter defect

  van de Kamp, J. M., Mancini, G. M. S., Pouwels, P. J. W., Betsalel, O. T., van Dooren, S. J. M., de Koning, I., Steenweg, M. E., Jakobs, C. A. J. M., van der Knaap, M. S. & Salomons, G. S., 2011, In: Clinical genetics. 79, 3, p. 264-272

  Research output: Contribution to journal › Article › Academic › peer-review
  52 Citations (Scopus)

• Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

  Pervaiz, M. A., Patterson, M. C., Struys, E. A., Salomons, G. S., Jakobs, C. A. J. M., Oglesbee, D. & Kirmani, S., 2011, In: Journal of neurology. 258, 8, p. 1564-1565

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

  Open Access
  7 Citations (Scopus)

• Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: Implications for diagnostics and neonatal screening

  Wamelink, M. M. C., Struys, E. A., Jansen, E. E. W., Blom, H. J., Vilboux, T., Gahl, W. A., Kömhoff, M., Jakobs, C. & Levtchenko, E. N., Mar 2011, In: Molecular Genetics and Metabolism. 102, 3, p. 339-342 4 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  23 Citations (Scopus)

• Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism

  Pearl, P. L., Shukla, L., Theodore, W. H., Jakobs, C. A. J. M. & Gibson, K. M., 2011, In: Brain and Development. 33, 9, p. 796-805

  Research output: Contribution to journal › Article › Academic › peer-review
  46 Citations (Scopus)