S.J.M. van Dooren

20102019
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Research Output 2010 2019

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Article
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 journalArticleAcademicpeer-review

Open Access

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: 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

Research output: Contribution to journalArticleAcademicpeer-review

2018

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: 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 journalArticleAcademicpeer-review

Open Access
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 journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

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 journalArticleAcademicpeer-review

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. & 30 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., 2010, In : Human Mutation. 31, 4, p. 380-390

Research output: Contribution to journalArticleAcademicpeer-review