van Vliet, K ; van Ginkel, WG ; Jahja, R...
https://discovery.ucl.ac.uk/id/eprint/10152449/1/J%20of%20Inher%20Metab%20Disea%20-%202022%20-%20Vliet%20-%20Neurocognitive%20outcome%20and%20mental%20health%20in%20children%20with%20tyrosinemia%20type%201%20and.pdf.  , 2022

Haijes, HA ; Molema, F ; Langeveld, M...
Haijes , HA , Molema , F , Langeveld , M , Janssen , M , Bosch , A , van Spronsen , F , Mulder , MF , Verhoeven-Duif , NM , Jans , JJM , van der Ploeg , A , Wagenmakers , M , Rubio-Gozalbo , ME , Brouwers , M , de Vries , MC , Langendonk , J , Williams , M & van Hasselt , PM 2020 , ' 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? ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 424-437 . https://doi.org/10.1002/jimd.12193.  , 2020

Welsink-Karssies, MM ; Ferdinandusse, S ; Geurtsen, GJ...
Welsink-Karssies , MM , Ferdinandusse , S , Geurtsen , GJ , Hollak , CEM , Huidekoper , H , Janssen , M , Langendonk , J , v.d. Lee , JH , O'Flaherty , R , Oostrom , KJ , Roosendaal , S , Rubio-Gozalbo , ME , Saldova , R , Treacy , EP , Vaz , FM , de Vries , MC , Engelen , MP & Bosch , A 2020 , ' Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers ' , Brain Communications , vol. 2 , no. 1 , 06 . https://doi.org/10.1093/braincomms/fcaa006.  , 2020

Heard JM ; Vrinten C ; Schlander M...
info:eu-repo/semantics/altIdentifier/pmid/31907071.  , 2020

Ammer, LS ; Oussoren, Esmeralda ; Muschol, NM...
Ammer , LS , Oussoren , E , Muschol , NM , Pohl , S , Rubio-Gozalbo , ME , Santer , R , Stuecker , R , Vettorazzi , E & Breyer , SR 2020 , ' Hip Morphology in Mucolipidosis Type II ' , Journal of Clinical Medicine , vol. 9 , no. 3 . https://doi.org/10.3390/jcm9030728.  , 2020

Welsink-Karssies, MM ; van Harskamp, D ; Ferdinandusse, S...
Welsink-Karssies , MM , van Harskamp , D , Ferdinandusse , S , Hollak , CEM , Huidekoper , H , Janssen , MCH , Kemper , EM , Langendonk , J , Rubio-Gozalbo , ME , de Vries , MC , Wijburg , FA , Schierbeek , H & Bosch , AM 2020 , ' The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 507-517 . https://doi.org/10.1002/jimd.12207.  , 2020

Rubio-Gozalbo, ME ; Haskovic, M ; Bosch, AM...
Rubio-Gozalbo , ME , Haskovic , M , Bosch , AM , Burnyte , B , Coelho , AI , Cassiman , D , Couce , ML , Dawson , C , Demirbas , D , Derks , T , Eyskens , F , Forga , MT , Grunewald , S , Haberle , J , Hochuli , M , Hubert , A , Huidekoper , H , Janeiro , P , Kotzka , J , Knerr , I , Labrune , P , Landau , YE , Langendonk , J , Moeslinger , D , Mueller-Wieland , D , Murphy , E , Ounap , K , Ramadza , D , Rivera , IA , Scholl-Buergi , S , Stepien , KM , Thijs , A , Tran , C , Vara , R , Visser , G , Vos , R , Vries , M , Waisbren , SE , Welsink-Karssies , MM , Wortmann , SB , Gautschi , M , Treacy , EP & Berry , GT 2019 , ' The natural history of classic galactosemia: lessons from the GalNet registry ' , Orphanet Journal of Rare Diseases , vol. 14 , 86 . https://doi.org/10.1186/s13023-019-1047-z.  , 2019

Kuiper, A ; Grunewald, S ; Murphy, E...
Kuiper , A , Grunewald , S , Murphy , E , Coenen , MA , Eggink , H , Zutt , R , Rubio-Gozalbo , ME , Bosch , AM , Williams , M , Derks , TGJ , Lachmann , RHL , Brouwers , M , Janssen , MCH , Tijssen , MA & Koning , TJ 2019 , ' Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 3 , pp. 451-458 . https://doi.org/10.1002/jimd.12054.  , 2019

van Rijt, WJ ; Ferdinandusse, S ; Giannopoulos, P...
van Rijt , WJ , Ferdinandusse , S , Giannopoulos , P , Ruiter , JP , Boer , L , Bosch , AM , Huidekoper , H , Rubio-Gozalbo , ME , Visser , G , Williams , M , Wanders , RJA & Derks , TGJ 2019 , ' Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 878-889 . https://doi.org/10.1002/jimd.12147.  , 2019

Haskovic, M ; Poot, WJ ; van Golde, RJT...
Haskovic , M , Poot , WJ , van Golde , RJT , Benneheij , S , Oussoren , E , de Wert , G , Krumeich , A & Rubio-Gozalbo , ME 2018 , ' Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects ' , Journal of Inherited Metabolic Disease , vol. 41 , no. 5 , pp. 791-797 . https://doi.org/10.1007/s10545-018-0179-y.  , 2018

Peeks, F ; Steunenberg, TAH ; Boer, F...
Peeks , F , Steunenberg , TAH , Boer , F , Rubio-Gozalbo , ME , Williams , M , Burghard , R , Rajas , F , Oosterveer , MH , Weinstein , DA & Derks , TGJ 2017 , ' Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control ' , Journal of Inherited Metabolic Disease , vol. 40 , no. 5 , pp. 695-702 . https://doi.org/10.1007/s10545-017-0039-1.  , 2017

Jahja, R ; van Spronsen, FJ ; de Sonneville, LMJ...
Jahja , R , van Spronsen , FJ , de Sonneville , LMJ , van der Meere , JJ , Bosch , AM , Hollak , CEM , Rubio-Gozalbo , ME , Brouwers , M , Hofstede , FC , de Vries , MC , Janssen , MCH , van der Ploeg , A , Langendonk , J & Huijbregts , SCJ 2017 , ' Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study ' , Behavior Genetics , vol. 47 , no. 5 , pp. 486-497 . https://doi.org/10.1007/s10519-017-9863-1.  , 2017

Capelle, Carine ; Meijden, Chris ; van den Hout, Hannerieke...
Capelle , C , Meijden , C , van den Hout , H , Jaeken , J , Baethmann , M , Voit , T , Haan , M , Derks , TGJ , Rubio-Gozalbo , ME , Willemsen , MA , Lachmann , RH , Mengel , E , Michelakakis , H , Jongste , J , Reuser , A & van der Ploeg , A 2016 , ' Childhood Pompe disease: clinical spectrum and genotype in 31 patients ' , Orphanet Journal of Rare Diseases , vol. 11 . https://doi.org/10.1186/s13023-016-0442-y.  , 2016

van Capelle, CI ; van der Meijden, JC ; van den Hout, JMP...
https://discovery.ucl.ac.uk/id/eprint/10050771/1/s13023-016-0442-y.pdf.  , 2016

Hollak, CEM ; Biegstraaten, M ; Baumgartner, MR...
Hollak , CEM , Biegstraaten , M , Baumgartner , MR , Belmatoug , N , Bembi , B , Bosch , A , Brouwers , M , Dekker , H , Dobbelaere , D , Engelen , M , Groenendijk , M C , Lachmann , R , Langendonk , J , Langeveld , M , Linthorst , G , Morava , E , Poll-The , BT , Rahman , S , Rubio-Gozalbo , ME , Spiekerkoetter , U , Treacy , E , Wanders , R , Zschocke , J & Hagendijk , R 2016 , ' Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks ' , Orphanet Journal of Rare Diseases , vol. 11 , 7 . https://doi.org/10.1186/s13023-016-0383-5.  , 2016