Monique Williams

20172021

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  • 2021

    High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

    Molema, F., Haijes, H. A., Janssen, M. C., Bosch, A. M., van Spronsen, F. J., Mulder, M. F., Verhoeven-Duif, N. M., Jans, J. J. M., van der Ploeg, A. T., Wagenmakers, M. A., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., de Vries, M. C., Fuchs, S., Langendonk, J. G., Rizopoulos, D., van Hasselt, P. M. & Williams, M., May 2021, In: Clinical Nutrition. 40, 5, p. 3622-3630 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2020

    Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

    Stroek, K., Boelen, A., Bouva, M. J., De Sain-van der Velden, M., Schielen, P. C. J. I., Maase, R., Engel, H., Jakobs, B., Kluijtmans, L. A. J., Mulder, M. F., Rubio-Gozalbo, M. E., van Spronsen, F. J., Visser, G., de Vries, M. C., Williams, M., Heijboer, A. C., Kemper, E. A. & Bosch, A. M., 1 Jan 2020, In: JIMD Reports. 54, 1, p. 68-78 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

    Haijes, H. A., Molema, F., Langeveld, M., Janssen, M. C., Bosch, A. M., van Spronsen, F., Mulder, M. F., Verhoeven-Duif, N. M., Jans, J. J. M., van der Ploeg, A. T., Wagenmakers, M. A., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., de Vries, M. C., Langendonk, J. G., Williams, M. & van Hasselt, P. M., 1 May 2020, In: Journal of Inherited Metabolic Disease. 43, 3, p. 424-437 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • 2019

    A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

    Jager, E. A., Kuijpers, M. M., Bosch, A. M., Mulder, M. F., Gozalbo, E. R., Visser, G., de Vries, M., Williams, M., Waterham, H. R., van Spronsen, F. J., Schielen, P. C. J. I. & Derks, T. G. J., 1 Sep 2019, In: Journal of Inherited Metabolic Disease. 42, 5, p. 890-897

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

    Williams, M., Valayannopoulos, V., Altassan, R., Chung, W. K., Heijboer, A. C., Keng, W. T., Lapatto, R., McClean, P., Mulder, M. F., Tylki-Szymańska, A., Walenkamp, M-J. E., Alfadhel, M., Alakeel, H., Salomons, G. S., Eyaid, W. & Wamelink, M. M. C., 1 Jan 2019, In: Journal of Inherited Metabolic Disease. 42, 1, p. 147-158 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

    Molema, F., Gleich, F., Burgard, P., van der Ploeg, A. T., Summar, M. L., Chapman, K. A., Lund, A. M., Rizopoulos, D., Kölker, S., Williams, M., Hörster, F., Jelsig, A. M., de Lonlay, P., Wijburg, F. A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C. & 49 others, Baumgartner, M. R., Häberle, J., Blasco-Alonso, J., Burlina, A. B., Rubert, L., Cazorla, A. G., Saladelafont, E. C. I., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, W-L., Chien, Y-H., Lee, N-C., Karall, D., Scholl-Bürgi, S., de Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Peña-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Additional individual contributors from E-IMD, Wijburg, F. A., Vara, R., Vives Piñera, I., Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M-C. & Barić, I., 1 Apr 2019, In: Molecular Genetics and Metabolism. 126, 4, p. 397-405 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry

    Molema, F., Gleich, F., Burgard, P., van der Ploeg, A. T., Summar, M. L., Chapman, K. A., Barić, I., Lund, A. M., Kölker, S., Williams, M. & Additional individual contributors from E-IMD, 1 Nov 2019, In: Journal of Inherited Metabolic Disease. 42, 6, p. 1162-1175 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

    Bleeker, J. C., Kok, I. L., Ferdinandusse, S., van der Pol, W. L., Cuppen, I., Bosch, A. M., Langeveld, M., Derks, T. G. J., Williams, M., de Vries, M., Mulder, M. F., Gozalbo, E. R., de Sain-van der Velden, M. G. M., Rennings, A. J., Schielen, P. J. C. I., Dekkers, E., Houtkooper, R. H., Waterham, H. R., Pras-Raves, M. L., Wanders, R. J. A. & 4 others, van Hasselt, P. M., Schoenmakers, M., Wijburg, F. A. & Visser, G., 1 May 2019, In: Journal of Inherited Metabolic Disease. 42, 3, p. 414-423 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

    Kuiper, A., Grünewald, S., Murphy, E., Coenen, M. A., Eggink, H., Zutt, R., Rubio-Gozalbo, M. E., Bosch, A. M., Williams, M., Derks, T. G. J., Lachmann, R. H. L., Brouwers, M. C. G. J., Janssen, M. C. H., Tijssen, M. A. & de Koning, T. J., 1 May 2019, In: Journal of Inherited Metabolic Disease. 42, 3, p. 451-458

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

    van Rijt, W. J., Ferdinandusse, S., Giannopoulos, P., Ruiter, J. P. N., de Boer, L., Bosch, A. M., Huidekoper, H. H., Rubio-Gozalbo, M. E., Visser, G., Williams, M., Wanders, R. J. A. & Derks, T. G. J., 1 Sep 2019, In: Journal of Inherited Metabolic Disease. 42, 5, p. 878-889

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

    Bleeker, J. C., Kok, I. L., Ferdinandusse, S., de Vries, M., Derks, T. G. J., Mulder, M. F., Williams, M., Gozalbo, E. R., Bosch, A. M., van den Hurk, D. T., de Sain-van der Velden, M. G. M., Waterham, H. R., Wijburg, F. A. & Visser, G., 2019, In: Journal of Inherited Metabolic Disease. 42, 1, p. 1-10 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

    Open Access
  • Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

    Posset, R., Garbade, S. F., Boy, N., Burlina, A. B., Dionisi-Vici, C., Dobbelaere, D., Garcia-Cazorla, A., de Lonlay, P., Teles, E. L., Vara, R., Mew, N. A., Batshaw, M. L., Baumgartner, M. R., McCandless, S. E., Seminara, J., Summar, M., Hoffmann, G. F., Kölker, S., Burgard, P., Additional individual contributors of the UCDC and the E-IMD consortium & 1 others, Zeman, J., 1 Jan 2019, In: Journal of Inherited Metabolic Disease. 42, 1, p. 93-106 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  • 2018

    14 MeV calibration of JET neutron detectors-phase 1: Calibration and characterization of the neutron source

    Litaudon, X., Abduallev, S., Abhangi, M., Abreu, P., Afzal, M., Aggarwal, K. M., Ahlgren, T., Ahn, J. H., Aho-Mantila, L., Aiba, N., Airila, M., Albanese, R., Aldred, V., Alegre, D., Alessi, E., Aleynikov, P., Alfier, A., Alkseev, A., Allinson, M., Alper, B. & 1,203 others, Alves, E., Ambrosino, G., Ambrosino, R., Amicucci, L., Amosov, V., Sundén, E. A., Angelone, M., Anghel, M., Angioni, C., Appel, L., Appelbee, C., Arena, P., Ariola, M., Arnichand, H., Arshad, S., Ash, A., Ashikawa, N., Aslanyan, V., Asunta, O., Auriemma, F., Austin, Y., Avotina, L., Axton, M. D., Ayres, C., Bacharis, M., Baciero, A., Baião, D., Bailey, S., Baker, A., Balboa, I., Balden, M., Balshaw, N., Bament, R., Banks, J. W., Baranov, Y. F., Barnard, M. A., Barnes, D., Barnes, M., Barnsley, R., Wiechec, A. B., Orte, L. B., Baruzzo, M., Basiuk, V., Bassan, M., Bastow, R., Batista, A., Batistoni, P., Baughan, R., Bauvir, B., Baylor, L., Bazylev, B., Beal, J., Beaumont, P. S., Beckers, M., Beckett, B., Becoulet, A., Bekris, N., Beldishevski, M., Bell, K., Belli, F., Bellinger, M., Belonohy, Ayed, N. B., Benterman, N. A., Bergsåker, H., Bernardo, J., Bernert, M., Berry, M., Bertalot, L., Besliu, C., Beurskens, M., Bieg, B., Bielecki, J., Biewer, T., Bigi, M., Bílková, P., Binda, F., Bisoffi, A., Bizarro, J. P. S., Björkas, C., Blackburn, J., Blackman, K., Blackman, T. R., Blanchard, P., Blatchford, P., Bobkov, V., Boboc, A., Bodnár, G., Bogar, O., Bolshakova, I., Bolzonella, T., Bonanomi, N., Bonelli, F., Boom, J., Booth, J., Borba, D., Borodin, D., Borodkina, I., Botrugno, A., Bottereau, C., Boulting, P., Bourdelle, C., Bowden, M., Bower, C., Bowman, C., Boyce, T., Boyd, C., Boyer, H. J., Bradshaw, J. M. A., Braic, V., Bravanec, R., Breizman, B., Bremond, S., Brennan, P. D., Breton, S., Brett, A., Brezinsek, S., Bright, M. D. J., Brix, M., Broeckx, W., Brombin, M., Brosławski, A., Brown, D. P. D., Brown, M., Bruno, E., Bucalossi, J., Buch, J., Buchanan, J., Buckley, M. A., Budny, R., Bufferand, H., Bulman, M., Bulmer, N., Bunting, P., Buratti, P., Burckhart, A., Buscarino, A., Busse, A., Butler, N. K., Bykov, I., Byrne, J., Cahyna, P., Calabrò, G., Calvo, I., Camenen, Y., Camp, P., Campling, D. C., Cane, J., Cannas, B., Capel, A. J., Card, P. J., Cardinali, A., Carman, P., Carr, M., Carralero, D., Carraro, L., Carvalho, B. B., Carvalho, I., Carvalho, P., Casson, F. J., Castaldo, C., Catarino, N., Caumont, J., Causa, F., Cavazzana, R., Cave-Ayland, K., Cavinato, M., Cecconello, M., Ceccuzzi, S., Cecil, E., Cenedese, A., Cesario, R., Challis, C. D., Chandler, M., Chandra, D., Chang, C. S., Chankin, A., Chapman, I. T., Chapman, S. C., Chernyshova, M., Chitarin, G., Ciraolo, G., Ciric, D., Citrin, J., Clairet, F., Clark, E., Clark, M., Clarkson, R., Clatworthy, D., Clements, C., Cleverly, M., Coad, J. P., Coates, P. A., Cobalt, A., Coccorese, V., Cocilovo, V., Coda, S., Coelho, R., Coenen, J. W., Coffey, I., Colas, L., Collins, S., Conka, D., Conroy, S., Conway, N., Coombs, D., Cooper, D., Cooper, S. R., Corradino, C., Corre, Y., Corrigan, G., Cortes, S., Coster, D., Couchman, A. S., Cox, M. P., Craciunescu, T., Cramp, S., Craven, R., Crisanti, F., Croci, G., Croft, D., Crombé, K., Crowe, R., Cruz, N., Cseh, G., Cufar, A., Cullen, A., Curuia, M., Czarnecka, A., Dabirikhah, H., Dalgliesh, P., Dalley, S., Dankowski, J., Darrow, D., Davies, O., Davis, W., Day, C., Day, I. E., Bock, M. D., Castro, A., de la Cal, E., de la Luna, E., Masi, G. D., de Pablos, J. L., Temmerman, G. D., Tommasi, G. D., Vries, P., Deakin, K., Deane, J., Agostini, F. D., Dejarnac, R., Delabie, E., Harder, N. D., Dendy, R. O., Denis, J., Denner, P., Devaux, S., Devynck, P., Maio, F. D., Siena, A. D., Troia, C. D., Dinca, P., D’inca, R., Ding, B., Dittmar, T., Doerk, H., Doerner, R. P., Donné, T., Dorling, S. E., Dormido-Canto, S., Doswon, S., Douai, D., Doyle, P. T., Drenik, A., Drewelow, P., Drews, P., Duckworth, P., Dumont, R., Dumortier, P., Dunai, D., Dunne, M., Ďuran, I., Durodié, F., Dutta, P., Duval, B. P., Dux, R., Dylst, K., Dzysiuk, N., Edappala, P. V., Edmond, J., Edwards, A. M., Edwards, J., Eich, T., Ekedahl, A., el-Jorf, R., Elsmore, C. G., Enachescu, M., Ericsson, G., Eriksson, F., Eriksson, J., Eriksson, L. G., Esposito, B., Esquembri, S., Esser, H. G., Esteve, D., Evans, B., Evans, G. E., Evison, G., Ewart, G. D., Fagan, D., Faitsch, M., Falie, D., Fanni, A., Fasoli, A., Faustin, J. M., Fawlk, N., Fazendeiro, L., Fedorczak, N., Felton, R. C., Fenton, K., Fernades, A., Fernandes, H., Ferreira, J., Fessey, J. A., Février, O., Ficker, O., Field, A., Fietz, S., Figueiredo, A., Figueiredo, J., Fil, A., Finburg, P., Firdaouss, M., Fischer, U., Fittill, L., Fitzgerald, M., Flammini, D., Flanagan, J., Fleming, C., Flinders, K., Fonnesu, N., Fontdecaba, J. M., Formisano, A., Forsythe, L., Fortuna, L., Fortuna-Zalesna, E., Fortune, M., Foster, S., Franke, T., Franklin, T., Frasca, M., Frassinetti, L., Freisinger, M., Fresa, R., Frigione, D., Fuchs, V., Fuller, D., Futatani, S., Fyvie, J., Gál, K., Galassi, D., Gałązka, K., Galdon-Quiroga, J., Gallagher, J., Gallart, D., Galvão, R., Gao, X., Gao, Y., Garcia, J., Garcia-Carrasco, A., García-Muñoz, M., Gardarein, J. L., Garzotti, L., Gaudio, P., Gauthier, E., Gear, D. F., Gee, S. J., Geiger, B., Gelfusa, M., Gerasimov, S., Gervasini, G., Gethins, M., Ghani, Z., Ghate, M., Gherendi, M., Giacalone, J. C., Giacomelli, L., Gibson, C. S., Giegerich, T., Gil, C., Gil, L., Gilligan, S., Gin, D., Giovannozzi, E., Girardo, J. B., Giroud, C., Giruzzi, G., Glöggler, S., Godwin, J., Goff, J., Gohil, P., Goloborod’ko, V., Gomes, R., Gonçalves, B., Goniche, M., Goodliffe, M., Goodyear, A., Gorini, G., Gosk, M., Goulding, R., Goussarov, A., Gowland, R., Graham, B., Graham, M. E., Graves, J. P., Grazier, N., Grazier, P., Green, N. R., Greuner, H., Grierson, B., Griph, F. S., Grisolia, C., Grist, D., Groth, M., Grove, R., Grundy, C. N., Grzonka, J., Guard, D., Guérard, C., Guillemaut, C., Guirlet, R., Gurl, C., Utoh, H. H., Hackett, L. J., Hacquin, S., Hagar, A., Hager, R., Hakola, A., Halitovs, M., Hall, S. J., Cook, S. P. H., Hamlyn-Harris, C., Hammond, K., Harrington, C., Harrison, J., Harting, D., Hasenbeck, F., Hatano, Y., Hatch, D. R., Haupt, T. D. V., Hawes, J., Hawkes, N. C., Hawkins, J., Hawkins, P., Haydon, P. W., Hayter, N., Hazel, S., Heesterman, P. J. L., Heinola, K., Hellesen, C., Hellsten, T., Helou, W., Hemming, O. N., Hender, T. C., Henderson, M., Henderson, S. S., Henriques, R., Hepple, D., Hermon, G., Hertout, P., Hidalgo, C., Highcock, E. G., Hill, M., Hillairet, J., Hillesheim, J., Hillis, D., Hizanidis, K., Hjalmarsson, A., Hobirk, J., Hodille, E., Hogben, C. H. A., Hogeweij, G. M. D., Hollingsworth, A., Hollis, S., Homfray, D. A., Horáček, J., Hornung, G., Horton, A. R., Horton, L. D., Horvath, L., Hotchin, S. P., Hough, M. R., Howarth, P. J., Hubbard, A., Huber, A., Huber, V., Huddleston, T. M., Hughes, M., Huijsmans, G. T. A., Hunter, C. L., Huynh, P., Hynes, A. M., Iglesias, D., Imazawa, N., Imbeaux, F., Imríšek, M., Incelli, M., Innocente, P., Irishkin, M., Ivanova-Stanik, I., Jachmich, S., Jacobsen, A. S., Jacquet, P., Jansons, J., Jardin, A., Järvinen, A., Jaulmes, F., Jednoróg, S., Jenkins, I., Jeong, C., Jepu, I., Joffrin, E., Johnson, R., Johnson, T., Johnston, J., Joita, L., Jones, G., Jones, T. T. C., Hoshino, K. K., Kallenbach, A., Kamiya, K., Kaniewski, J., Kantor, A., Kappatou, A., Karhunen, J., Karkinsky, D., Karnowska, I., Kaufman, M., Kaveney, G., Kazakov, Y., Kazantzidis, V., Keeling, D. L., Keenan, T., Keep, J., Kempenaars, M., Kennedy, C., Kenny, D., Kent, J., Kent, O. N., Khilkevich, E., Kim, H. T., Kim, H. S., Kinch, A., King, C., King, D., King, R. F., Kinna, D. J., Kiptily, V., Kirk, A., Kirov, K., Kirschner, A., Kizane, G., Klepper, C., Klix, A., Knight, P., Knipe, S. J., Knott, S., Kobuchi, T., Köchl, F., Kocsis, G., Kodeli, I., Kogan, L., Kogut, D., Koivuranta, S., Kominis, Y., Köppen, M., Kos, B., Koskela, T., Koslowski, H. R., Koubiti, M., Kovari, M., Kowalska-Strzęciwilk, E., Krasilnikov, A., Krasilnikov, V., Krawczyk, N., Kresina, M., Krieger, K., Krivska, A., Kruezi, U., Książek, I., Kukushkin, A., Kundu, A., Kurki-Suonio, T., Kwak, S., Kwiatkowski, R., Kwon, O. J., Laguardia, L., Lahtinen, A., Laing, A., Lam, N., Lambertz, H. T., Lane, C., Lang, P. T., Lanthaler, S., Lapins, J., Lasa, A., Last, J. R., Łaszyńska, E., Lawless, R., Lawson, A., Lawson, K. D., Lazaros, A., Lazzaro, E., Leddy, J., Lee, S., Lefebvre, X., Leggate, H. J., Lehmann, J., Lehnen, M., Leichtle, D., Leichuer, P., Leipold, F., Lengar, I., Lennholm, M., Lerche, E., Lescinskis, A., Lesnoj, S., Letellier, E., Leyland, M., Leysen, W., Li, L., Liang, Y., Likonen, J., Linke, J., Linsmeier, C., Lipschultz, B., Liu, G., Liu, Y., Schiavo, V. P. L., Loarer, T., Loarte, A., Lobel, R. C., Lomanowski, B., Lomas, P. J., Lönnroth, J., López, J. M., López-Razola, J., Lorenzini, R., Losada, U., Lovell, J. J., Loving, A. B., Lowry, C., Luce, T., Lucock, R. M. A., Lukin, A., Luna, C., Lungaroni, M., Lungu, C. P., Lungu, M., Lunniss, A., Lupelli, I., Lyssoivan, A., Macdonald, N., Macheta, P., Maczewa, K., Magesh, B., Maget, P., Maggi, C., Maier, H., Mailloux, J., Makkonen, T., Makwana, R., Malaquias, A., Malizia, A., Manas, P., Manning, A., Manso, M. E., Mantica, P., Mantsinen, M., Manzanares, A., Maquet, P., Marandet, Y., Marcenko, N., Marchetto, C., Marchuk, O., Marinelli, M., Marinucci, M., Markovič, T., Marocco, D., Marot, L., Marren, C. A., Marshal, R., Martin, A., Martin, Y., Martín de Aguilera, A., Martínez, F. J., Martín-Solís, J. R., Martynova, Y., Maruyama, S., Masiello, A., Maslov, M., Matejcik, S., Mattei, M., Matthews, G. F., Maviglia, F., Mayer, M., Mayoral, M. L., May-Smith, T., Mazon, D., Mazzotta, C., McAdams, R., McCarthy, P. J., McClements, K. G., McCormack, O., McCullen, P. A., McDonald, D., McIntosh, S., McKean, R., McKehon, J., Meadows, R. C., Meakins, A., Medina, F., Medland, M., Medley, S., Meigh, S., Meigs, A. G., Meisl, G., Meitner, S., Meneses, L., Menmuir, S., Mergia, K., Merrigan, I. R., Mertens, P., Meshchaninov, S., Messiaen, A., Meyer, H., Mianowski, S., Michling, R., Middleton-Gear, D., Miettunen, J., Militello, F., Militello-Asp, E., Miloshevsky, G., Mink, F., Minucci, S., Miyoshi, Y., Mlynář, J., Molina, D., Monakhov, I., Moneti, M., Mooney, R., Moradi, S., Mordijck, S., Moreira, L., Moreno, R., Moro, F., Morris, A. W., Morris, J., Moser, L., Mosher, S., Moulton, D., Murari, A., Muraro, A., Murphy, S., Asakura, N. N., Na, Y. S., Nabais, F., Naish, R., Nakano, T., Nardon, E., Naulin, V., Nave, M. F. F., Nedzelski, I., Nemtsev, G., Nespoli, F., Neto, A., Neu, R., Neverov, V. S., Newman, M., Nicholls, K. J., Nicolas, T., Nielsen, A. H., Nielsen, P., Nilsson, E., Nishijima, D., Noble, C., Nocente, M., Nodwell, D., Nordlund, K., Nordman, H., Nouailletas, R., Nunes, I., Oberkofler, M., Odupitan, T., Ogawa, M. T., O’gorman, T., Okabayashi, M., Olney, R., Omolayo, O., O’mullane, M., Ongena, J., Orsitto, F., Orszagh, J., Oswuigwe, B. I., Otin, R., Owen, A., Paccagnella, R., Pace, N., Pacella, D., Packer, L. W., Page, A., Pajuste, E., Palazzo, S., Pamela, S., Panja, S., Papp, P., Paprok, R., Parail, V., Park, M., Diaz, F. P., Parsons, M., Pasqualotto, R., Patel, A., Pathak, S., Paton, D., Patten, H., Pau, A., Pawelec, E., Soldan, C. P., Peackoc, A., Pearson, I. J., Pehkonen, S. 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  • 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 others, Weinhold, 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.

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    Open Access
  • Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

    Khaikin, Y., Sidky, S., Abdenur, J., Anastasi, A., Ballhausen, D., Buoni, S., Chan, A., Cheillan, D., Dorison, N., Goldenberg, A., Goldstein, J., Hofstede, F. C., Jacquemont, M-L., Koeberl, D. D., Lion-Francois, L., Lund, A. M., Mention, K., Mundy, H., O'Rourke, D., Pitelet, G. & 6 others, Raspall-Chaure, M., Tassini, M., Billette de Villemeur, T., Williams, M., Salomons, G. S. & Mercimek-Andrews, S., 2018, In: European Journal of Paediatric Neurology. 22, 3, p. 369-379

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  • 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.

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  • Relationship between method of anastomosis and anastomotic failure after right hemicolectomy and ileo-caecal resection: an international snapshot audit

    Battersby, N., Bhangu, A., Chaudhri, S., El-Hussuna, A., Frasson, M., Nepogodiev, D., Singh, B., Vennix, S., Zmora, O., Altomare, D., Bemelman, W., Christensen, P., D'Hoore, A., Laurberg, S., Morton, D., Rubbini, M., Vaizey, C., Magill, L., Perry, R., Sheward, N. & 31 others, Ives, N., Mehta, S., Cillo, M., Estefania, D., Patron Uriburu, J., Ruiz, H., Salomon, M., Makhmudov, A., Selnyahina, L., Varabei, A., Vizhynis, Y., Claeys, D., Defoort, B., Muysoms, F., Pletinckx, P., Vergucht, V., Debergh, I., Knol, J., Haeck, L., Wang, X., Pronk, A., Mulder, I., Williams, M., Fernandes, R., Yeung, J., Lim, J., Williams, G., Alam, N., Williams, G., Tan, S. & The 2015 European Society of Coloproctology collaborating group, 1 Aug 2017, In: Colorectal Disease. 19, 8, p. e296-e311

    Research output: Contribution to journalArticleAcademicpeer-review