S.J.M. van Dooren

Research output

Research output per year 2006 2013 2014 2019 2020 2020

• 16 Article

Research output per year

Research output per year

Search results

• 2020

  Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency

  Pop, A., Smith, D. E. C., Kirby, T., Walters, D., Gibson, K. M., Mahmoudi, S., van Dooren, S. J. M., Kanhai, W. A., Fernandez-Ojeda, M. R., Wever, E. J. M., Koster, J., Waterham, H. R., Grob, B., Roos, B., Wamelink, M. M. C., Chen, J., Natesan, S. & Salomons, G. S., Jul 2020, In: Molecular Genetics and Metabolism. 130, 3, p. 172-178 7 p.

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

  Open Access
  4 Citations (Scopus)

• Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

  Beerepoot, S., van Dooren, S. J. M., Salomons, G. S., Boelens, J. J., Jacobs, E. H., van der Knaap, M. S., van Kuilenburg, A. B. P. & Wolf, N. I., 1 Oct 2020, In: Neurogenetics. 21, 4, p. 289-299 11 p.

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

  Open Access
  5 Citations (Scopus)
• 2019

  D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

  Pop, A., Struys, E. A., Jansen, E. E. W., Fernandez, M. R., Kanhai, W. A., van Dooren, S. J. M., Ozturk, S., van Oostendorp, J., Lennertz, P., Kranendijk, M., van der Knaap, M. S., Gibson, K. M., van Schaftingen, E. & Salomons, G. S., 1 Jul 2019, In: Human mutation. 40, 7, p. 975-982 8 p.

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

  Open Access
  6 Citations (Scopus)

• The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy: A common epileptic encephalopathy

  Coughlin, C. R., Swanson, M. A., Spector, E., Meeks, N. J. L., Kronquist, K. E., Aslamy, M., Wempe, M. F., van Karnebeek, C. D. M., Gospe, S. M., Aziz, V. G., Tsai, B. P., Gao, H., Nagy, P. L., Hyland, K., van Dooren, S. J. M., Salomons, G. S. & van Hove, J. L. K., Mar 2019, In: Journal of Inherited Metabolic Disease. 42, 2, p. 353-361 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  43 Citations (Scopus)
• 2018

  An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants: functional analysis of CIC variants

  Pop, A., Williams, M., Struys, E. A., Monné, M., Jansen, E. E. W., de Grassi, A., Kanhai, W. A., Scarcia, P., Ojeda, M. R. F., Porcelli, V., van Dooren, S. J. M., Lennertz, P., Nota, B., Abdenur, J. E., Coman, D., Das, A. M., el-Gharbawy, A., Nuoffer, J-M., Polic, B., Santer, R., & 5 othersWeinhold, N., Zuccarelli, B., Palmieri, F., Palmieri, L. & Salomons, G. S., 1 Mar 2018, In: Journal of Inherited Metabolic Disease. 41, 2, p. 169-180 12 p.

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

  Open Access
  16 Citations (Scopus)
• 2017

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

  Mendes, M. I., Smith, D. E. C., Pop, A., Lennertz, P., Fernandez Ojeda, M. R., Kanhai, W. A., van Dooren, S. J. M., Anikster, Y., Barić, I., Boelen, C., Campistol, J., de Boer, L., Kariminejad, A., Kayserili, H., Roubertie, A., Verbruggen, K. T., Vianey-Saban, C., Williams, M. & Salomons, G. S., 1 May 2017, In: Human mutation. 38, 5, p. 524-531 8 p.

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

  Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

  van de Kamp, J. M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin-Roque, J., Osaka, H., van Dooren, S. J. M., Mancini, G. M., Steinberg, S. J. & Salomons, G., 2015, In: Clinical genetics. 87, 2, p. 141-147

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

  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)

• Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

  Mendes, M. I. S., Colaco, H. G., Smith, D. E. C., Ramos, R. J. J. F., Pop, A., van Dooren, S. J. M., de Almeida, I. T., Kluijtmans, L. A. J., Janssen, M. C. H., Rivera, I., Salomons, G. S., Leandro, P. & Blom, H. J., 2014, In: Journal of Inherited Metabolic Disease. 37, 2, p. 245-254

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

• RNA Sequencing of Creatine Transporter (SLC6A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix

  Nota, B., Ndika, J. D. T., van de Kamp, J. M., Kanhai, W. A., van Dooren, S. J. M., van de Wiel, M. A., Pals, G. & Salomons, G. S., 2014, In: Human mutation. 35, 9, p. 1128-1135

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

  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
  101 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)
• 2012

  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
  22 Citations (Scopus)
• 2011

  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
  46 Citations (Scopus)
• 2010

  An Overview of L-2-Hydroxyglutarate Dehydrogenase Gene (L2HGDH) Variants: A Genotype-Phenotype Study

  Steenweg, M. E., Jakobs, C., Errami, A., van Dooren, S. J. M., Bartolome, M. T. A., Aerssens, P., Baric, I., Baumann, M., Bonafe, L., Chabrol, B., Clarke, J. T. R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M. D., de Klerk, H. B. C., & 31 othersKorman, S. H., Lee, C., Lund, A. M., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M. L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F. K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D. I., Spreeuwenberg, M. D., Celli, J., den Dunnen, J. T., van der Knaap, M. S., Salomons, G. S. & Augoustides-Savvapoulou, P., 2010, In: Human mutation. 31, 4, p. 380-390

  Research output: Contribution to journal › Article › Academic › peer-review
  82 Citations (Scopus)
• 2006

  Alexander disease: Ventricular garlands and abnormalities of the medulla and spinal cord

  Van Der Knaap, M. S., Ramesh, V., Schiffmann, R., Blaser, S., Kyllerman, M., Gholkar, A., Ellison, D. W., Van Der Voorn, J. P., Van Dooren, S. J. M., Jakobs, C., Barkhof, F. & Salomons, G. S., Feb 2006, In: Neurology. 66, 4, p. 494-498 5 p.

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