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Research Output 2001 2019

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., Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 890-897 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

144 Downloads (Pure)

De kracht van het begrijpen

Rubio Gozalbo, E., 2019, Maastricht: Maastricht University. 13 p.

Research output: Book/ReportInaugural speechPopular

Open Access
File

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., 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., Grunewald, 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., May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 451-458 8 p.

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., Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 159-168 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The natural history of classic galactosemia: lessons from the GalNet registry

Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Haberle, J., Hochuli, M., Hubert, A., Huidekoper, H. H., Janeiro, P., Kotzka, J., Knerr, I. & 23 others, Labrune, P., Landau, Y. E., Langendonk, J. G., Moeslinger, D., Mueller-Wieland, D., Murphy, E., Ounap, K., Ramadza, D., Rivera, I. A., Scholl-Buergi, S., Stepien, K. M., Thijs, A., Tran, C., Vara, R., Visser, G., Vos, R., de Vries, M., Waisbren, S. E., Welsink-Karssies, M. M., Wortmann, S. B., Gautschi, M., Treacy, E. P. & Berry, G. T., 27 Apr 2019, In : Orphanet Journal of Rare Diseases. 14, 11 p., 86.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia

Haskovic, M., Derks, B., van der Ploeg, L., Trommelen, J., Nyakayiru, J., van Loon, L. J. C., Mackinnon, S., Yue, W. W., Peake, R. W. A., Zha, L., Demirbas, D., Qi, W., Huang, X., Berry, G. T., Achten, J., Bierau, J., Rubio-Gozalbo, M. E. & Coelho, A. I., 26 Nov 2018, In : Orphanet Journal of Rare Diseases. 13, 8 p., 212.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

Colhoun, H-O., Rubio Gozalbo, M. E., Bosch, A. M., Knerr, I., Dawson, C., Brady, J., Galligan, M., Stepien, K., O'Flaherty, R., Moss, C. C., Barker, P. P., Fitzgibbon, M., Doran, P. P. & Treacy, E. P., 19 Sep 2018, In : Orphanet Journal of Rare Diseases. 13, 13 p., 164.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Hereditary galactosemia

Demirbas, D., Coelho, A. I., Rubio-Gozalbo, M. E. & Berry, G. T., 1 Jun 2018, In : Metabolism-Clinical and Experimental. 83, p. 188-196 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Impaired fertility and motor function in a zebrafish model for classic galactosemia

Vanoevelen, J. M., van Erven, B., Bierau, J., Huang, X., Berry, G. T., Vos, R., Coelho, A. I. & Rubio-Gozalbo, M. E., 1 Jan 2018, In : Journal of Inherited Metabolic Disease. 41, 1, p. 117-127 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects

Haskovic, M., Poot, W. J., van Golde, R. J. T., Benneheij, S. H., Oussoren, E., de Wert, G. M. W. R., Krumeich, A. & Rubio-Gozalbo, M. E., 1 Sep 2018, In : Journal of Inherited Metabolic Disease. 41, 5, p. 791-797 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria"

Demirdas, S., van Spronsen, F. J., Hollak, C. E. M., van der Lee, J. H., Bisschop, P. H., Vaz, F. M., ter Horst, N. M., Rubio-Gozalbo, M. E. & Bosch, A. M., Feb 2018, In : Annals of Nutrition and Metabolism. 72, 1, p. 80-81 2 p.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

Open Access

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Huijbregts, S. C. J., Bosch, A. M., Simons, Q. A., Jahja, R., Brouwers, M. C. G. J., De Sonneville, L. M. J., De Vries, M. C., Hofstede, F. C., Hollak, C. E. M., Janssen, M. C. H., Langendonk, J. G., Rubio-Gozalbo, M. E., Van der Meere, J. J., Van der Ploeg, A. T. & Van Spronsen, F. J., 1 Sep 2018, In : Molecular Genetics and Metabolism. 125, 1-2, p. 96-103 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2017

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Falkenberg, K. D., Braverman, N. E., Moser, A. B., Steinberg, S. J., Klouwer, F. C. C., Schluter, A., Ruiz, M., Pujol, A., Engvall, M., Naess, K., van Spronsen, F., Korver-Keularts, I., Rubio-Gozalbo, M. E., Ferdinandusse, S., Wanders, R. J. A. & Waterham, H. R., 7 Dec 2017, In : American Journal of Human Genetics. 101, 6, p. 965-976 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis

van Erven, B., Welling, L., van Calcar, S. C., Doulgeraki, A., Eyskens, F., Gribben, J., Treacy, E. P., Vos, R., Waisbren, S. E., Rubio-Gozalbo, M. E. & Bosch, A. M., 2017, In : JIMD reports. 35, p. 87-96 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model

Coelho, A. I., Bierau, J., Lindhout, M., Achten, J., Kramer, B. W. & Rubio-Gozalbo, M. E., Sep 2017, In : The Anatomical Record: advances in integrative anatomy and evolutionary biology. 300, 9, p. 1570-1575 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

Peeks, F., Steunenberg, T. A. H., de Boer, F., Rubio-Gozalbo, M. E., Williams, M., Burghard, R., Rajas, F., Oosterveer, M. H., Weinstein, D. A. & Derks, T. G. J., Sep 2017, In : Journal of Inherited Metabolic Disease. 40, 5, p. 695-702 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

Jahja, R., van der Meere, J. J., Legemaat, A. M., Rubio-Gozalbo, M. E., Hofstede, F. C., van der Ploeg, A. T., Langendonk, J. G., Huijbregts, S. C. J., de Sonneville, L. M. J., Bosch, A. M., Hollak, C. E. M., Brouwers, M. C. G. J., de Vries, M. C., Janssen, M. C. H. & van Spronsen, F. J., May 2017, In : Neuropsychology. 31, 4, p. 437-447 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia

van Erven, B., Jansma, B. M., Rubio-Gozalbo, M. E. & Timmers, I., 22 Aug 2017, In : Scientific Reports. 7, 1, 13 p., 9095.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

van Erven, B., Berry, G. T., Cassiman, D., Connolly, G., Forga, M., Gautschi, M., Gubbels, C. S., Hollak, C. E. M., Janssen, M. C., Knerr, I., Labrune, P., Langendonk, J. G., Ounap, K., Thijs, A., Vos, R., Wortmann, S. B. & Rubio-Gozalbo, M. E., Jul 2017, In : Fertility and Sterility. 108, 1, p. 168-174 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

Welling, L., Bernstein, L. E., Berry, G. T., Burlina, A. B., Eyskens, F., Gautschi, M., Grunewald, S., Gubbels, C. S., Knerr, I., Labrune, P., van der Lee, J. H., MacDonald, A., Murphy, E., Portnoi, P. A., Ounap, K., Potter, N. L., Rubio-Gozalbo, M. E., Spencer, J. B., Timmers, I., Treacy, E. P. & 3 others, Van Calcar, S. C., Waisbren, S. E. & Bosch, A. M., Mar 2017, In : Journal of Inherited Metabolic Disease. 40, 2, p. 171-176 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

Jahja, R., van Spronsen, F. J., de Sonneville, L. M. J., van der Meere, J. J., Bosch, A. M., Hollak, C. E. M., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., Hofstede, F. C., de Vries, M. C., Janssen, M. C. H., van der Ploeg, A. T., Langendonk, J. G. & Huijbregts, S. C. J., Sep 2017, In : Behavior Genetics. 47, 5, p. 486-497 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria

Demirdas, S., van Spronsen, F. J., Hollak, C. E. M., van der Lee, J. H., Bisschop, P. H., Vaz, F. M., ter Horst, N. M., Rubio-Gozalbo, M. E. & Bosch, A. M., 2017, In : Annals of Nutrition and Metabolism. 70, 2, p. 111-121 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1

van Ginkel, W. G., van Vliet, D., Burgerhof, J. G. M., de Blaauw, P., Gozalbo, M. E. R., Heiner-Fokkema, M. R. & van Spronsen, F. J., 26 Sep 2017, In : PLOS ONE. 12, 9, 12 p., 0185342.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Sweet and sour: an update on classic galactosemia

Coelho, A. I., Rubio-Gozalbo, M. E., Vicente, J. B. & Rivera, I., May 2017, In : Journal of Inherited Metabolic Disease. 40, 3, p. 325-342 18 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

The galactosemia network (GalNet)

Rubio-Gozalbo, M. E., Bosch, A. M., Burlina, A., Berry, G. T. & Treacy, E. P., Mar 2017, In : Journal of Inherited Metabolic Disease. 40, 2, p. 169-170 2 p.

Research output: Contribution to journalComment/Letter to the editorAcademicpeer-review

2016
2 Citations (Scopus)

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, E., Tiemes, V., Thiel, C., Seta, N., de Lonlay, P., de Klerk, H., Mulder, M., Rubio-Gozalbo, E., Visser, G., van Hasselt, P., Horovitz, D. D. G., Moura de Souza, C. F., Schwartz, I. V. D., Green, A., Al-Owain, M., Uziel, G., Sigaudy, S., Chabrol, B., van Spronsen, F-J., Steinert, M. & 11 others, Komini, E., Wurm, D., Bevot, A., Ayadi, A., Huijben, K., Dercksen, M., Witters, P., Jaeken, J., Matthijs, G., Lefeber, D. J. & Wevers, R. A., Sep 2016, In : Journal of Inherited Metabolic Disease. 39, 5, p. 713-723

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)
134 Downloads (Pure)

Assessing Microstructural Substrates of White Matter Abnormalities: A Comparative Study Using DTI and NODDI

Timmers, I., Roebroeck, A., Bastiani, M., Jansma, B., Rubio-Gozalbo, E. & Zhang, H., 21 Dec 2016, In : PLOS ONE. 11, 12, 15 p., e0167884.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
File

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

van Capelle, C. I., van der Meijden, J. C., van den Hout, J. M. P., Jaeken, J., Baethmann, M., Voit, T., Kroos, M. A., Derks, T. G. J., Rubio-Gozalbo, M. E., Willemsen, M. A., Lachmann, R. H., Mengel, E., Michelakakis, H., de Jongste, J. C., Reuser, A. J. J. & van der Ploeg, A. T., 18 May 2016, In : Orphanet Journal of Rare Diseases. 11, 65.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
6 Citations (Scopus)

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

Maratha, A., Stockmann, H., Coss, K. P., Rubio Gozalbo, E., Knerr, I., Fitzgibbon, M., McVeigh, T. P., Foley, P., Moss, C., Colhoun, H-O., van Erven, B., Stephens, K., Doran, P., Rudd, P. & Treacy, E., Jul 2016, In : European Journal of Human Genetics. 24, 7, p. 976-984

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

Grey matter density decreases as well as increases in patients with classic galactosemia: a voxel-based morphometry study

Timmers, I., van der Korput, L. D., Jansma, B. M. & Rubio Gozalbo, E., 1 Oct 2016, In : Brain Research. 1648 , Part A, p. 339-344 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia

Stockmann, H., Coss, K. P., Rubio Gozalbo, E., Knerr, I., Fitzgibbon, M., Maratha, A., Wilson, J., Rutt, P. & Treacy, E. P., 2016, JIMD Reports. Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J. & Peters, V. (eds.). Berlin Heidelberg: Springer, Vol. 27. p. 47-53

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2 Citations (Scopus)

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

Hollak, C. E. M., Biegstraaten, M., Baumgartner, M. R., Belmatoug, N., Bembi, B., Bosch, A., Brouwers, M., Dekker, H., Dobbelaere, D., Engelen, M., Groenendijk, M. C., Lachmann, R., Langendonk, J. G., Langeveld, M., Linthorst, G., Morava, E., Poll-The, B. T., Rahman, S., Rubio Gozalbo, E., Spiekerkoetter, U. & 4 others, Treacy, E., Wanders, R., Zschocke, J. & Hagendijk, R., 25 Jan 2016, In : Orphanet Journal of Rare Diseases. 11, 7.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
5 Citations (Scopus)

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

Jahja, R., van Spronsen, F. J., de Sonneville, L. M. J., van der Meere, J. J., Bosch, A. M., Hollak, C. E. M., Rubio Gozalbo, E., Brouwers, M. C. G. J., Hofstede, F. C., de Vries, M. C., Janssen, M. C. H., van der Ploeg, A. T., Langendonk, J. G. & Huijbregts, S. C. J., May 2016, In : Journal of Inherited Metabolic Disease. 39, 3, p. 355-362

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

Anjema, K., Hofstede, F. C., Bosch, A. M., Rubio-Gozalbo, E., de Vries, M. C., Boelen, C. C. A., van Rijn, M. & van Spronsen, F. J., 29 Jan 2016, In : Orphanet Journal of Rare Diseases. 11, 10.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2015
3 Citations (Scopus)

Affected functional networks associated with sentence production in classic galactosemia

Timmers, I., van den Hurk, J., Hofman, P. A. M., Zimmermann, L. J. I., Uludag, K., Jansma, B. M. & Rubio-Gozalbo, M. E., 7 Aug 2015, In : Brain Research. 1616, p. 166-176 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

Chien, Y-H., Abdenur, J. E., Baronio, F., Bannick, A. A., Corrales, F., Couce, M., Donner, M. G., Ficicioglu, C., Freehauf, C., Frithiof, D., Gotway, G., Hirabayashi, K., Hofstede, F., Hoganson, G., Hwu, W-L., James, P., Kim, S., Korman, S. H., Lachmann, R., Levy, H. & 19 others, Lindner, M., Lykopoulou, L., Mayatepek, E., Muntau, A., Okano, Y., Raymond, K., Rubio-Gozalbo, E., Scholl-Buergi, S., Schulze, A., Singh, R., Stabler, S., Stuy, M., Thomas, J., Wagner, C., Wilson, W. G., Wortmann, S., Yamamoto, S., Pao, M. & Blom, H. J., 20 Aug 2015, In : Orphanet Journal of Rare Diseases. 10, 99.

Research output: Contribution to journalArticleAcademicpeer-review

15 Citations (Scopus)

White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging

Timmers, I., Zhang, H., Bastiani, M., Jansma, B. M., Roebroeck, A. & Rubio-Gozalbo, M. E., 1 Jan 2015, In : Journal of Inherited Metabolic Disease. 38, 2, p. 295-304

Research output: Contribution to journalArticleAcademicpeer-review

2014

Assessing microstructural substrates of white matter abnormalities using NODDI : application to a metabolic disease

Timmers, I., Roebroeck, A., Bastiani, M., Jansma, B. M., Rubio-Gozalbo, M. E. & Zhang, H., 1 Jan 2014.

Research output: Contribution to conferencePosterAcademic

2013

Adducted thumbs: A clinical clue to genetic diagnosis

Verhagen, J. M. A., Schrander-Stumpel, C. T. R. M., Blezer, M. M. J., Weber, J. W., Schrander, J. J. P., Rubio-Gozalbo, M. E., Bakker, J. A., Stegmann, A. P. A., Vos, Y. J. & Frints, S. G. M., Mar 2013, In : European Journal of Medical Genetics. 56, 3, p. 153-158

Research output: Contribution to journalArticleAcademicpeer-review

An update on serine deficiency disorders

van der Crabben, S. N., Verhoeven-Duif, N. M., Brilstra, E. H., Van Maldergem, L., Coskun, T., Rubio-Gozalbo, E., Berger, R. & de Koning, T. J., Jul 2013, In : Journal of Inherited Metabolic Disease. 36, 4, p. 613-619

Research output: Contribution to journalArticleAcademicpeer-review

5 Citations (Scopus)

Skeletal health in adult patients with classic galactosemia

Batey, L. A., Welt, C. K., Rohr, F., Wessel, A., Anastasoaie, V., Feldman, H. A., Guo, C. -Y., Rubio-Gozalbo, E., Berry, G. & Gordon, C. M., Feb 2013, In : Osteoporosis International. 24, 2, p. 501-509

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

Temporal characteristics of online syntactic sentence planning: an event-related potential study

Timmers, I., Gentile, F., Rubio-Gozalbo, M. E. & Jansma, B. M., 20 Dec 2013, In : PLOS ONE. 8, 12, 11 p., 82884.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
11 Citations (Scopus)

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype

Anjema, K., van Rijn, M., Hofstede, F. C., Bosch, A. M., Hollak, C. E. M., Rubio-Gozalbo, E., de Vries, M. C., Janssen, M. C. H., Boelen, C. C. A., Burgerhof, J. G. M., Blau, N., Heiner-Fokkema, M. R. & van Spronsen, F. J., 10 Jul 2013, In : Orphanet Journal of Rare Diseases. 8, 1

Research output: Contribution to journalArticleAcademicpeer-review

2012
4 Citations (Scopus)

From Mind to Mouth: Event Related Potentials of Sentence Production in Classic Galactosemia

Timmers, I., Jansma, B. M. & Rubio-Gozalbo, M. E., 26 Dec 2012, In : PLOS ONE. 7, 12, 13 p., 52826.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
49 Citations (Scopus)

The adult galactosemic phenotype

Waisbren, S. E., Potter, N. L., Gordon, C. M., Green, R. C., Greenstein, P., Gubbels, C. S., Rubio-Gozalbo, M. E., Schomer, D., Welt, C., Anastasoaie, V., D'Anna, K., Gentile, J., Guo, C. Y., Hecht, L., Jackson, R., Jansma, B. M., Li, Y., Lip, V., Miller, D. T., Murray, M. & 11 others, Power, L., Quinn, N., Rohr, F., Shen, Y., Skinder-Meredith, A., Timmers, I., Tunick, R., Wessel, A., Levy, H., Elsas, L. & Berry, G. T., 1 Mar 2012, In : Journal of Inherited Metabolic Disease. 32, 2, p. 279-286

Research output: Contribution to journalArticleAcademicpeer-review

2011

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

Tabatabaie, L., Klomp, L. W. J., Rubio-Gozalbo, M. E., Spaapen, L. J. M., Haagen, A. A. M., Dorland, L. & de Koning, T. J., Feb 2011, In : Journal of Inherited Metabolic Disease. 34, 1, p. 181-184

Research output: Contribution to journalArticleAcademicpeer-review

10 Citations (Scopus)
109 Downloads (Pure)

FSH isoform pattern in classic galactosemia

Gubbels, C. S., Thomas, C. M., Wodzig, K. W. H., Olthaar, A. J., Jaeken, J., Sweep, F. C. & Rubio-Gozalbo, M. E., 1 Jan 2011, In : Journal of Inherited Metabolic Disease. 34, 2, p. 387-390

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
File
5 Citations (Scopus)

Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions

Timmers, I., van den Hurk, J., Di Salle, F., Rubio-Gozalbo, M. E. & Jansma, B., Apr 2011, In : Journal of Inherited Metabolic Disease. 34, 2, p. 367-376 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Ovarian function in girls and women with GALT-deficiency galactosemia

Fridovich-Keil, J. L., Gubbels, C. S., Spencer, J. B., Sanders, R. D., Land, J. A. & Rubio-Gozalbo, E., Apr 2011, In : Journal of Inherited Metabolic Disease. 34, 2, p. 357-366

Research output: Contribution to journalArticleAcademicpeer-review