Childhood Pompe disease: clinical spectrum and genotype in 31 patients von 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

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Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease) von de Ruijter, J., Broere, L., Mulder, M. F., van der Ploeg, A. T., Rubio-Gozalbo, M. E., Wortmann, S. B., Visser, G., Wijburg, F. A.

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Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency von Tabatabaie, L, Klomp, L. W. J, Rubio-Gozalbo, M. E, Spaapen, L. J. M, Haagen, A. A. M, Dorland, L, de Koning, T. J

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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 von Stroek, Kevin, Boelen, Anita, Bouva, Marelle J., De Sain‐van der Velden, Monique, Schielen, Peter C. J. I., Maase, Rose, Engel, Henk, Jakobs, Bernadette, Kluijtmans, Leo A. J., Mulder, Margot F., Rubio‐Gozalbo, M. E., Spronsen, Francjan J., Visser, Gepke, Vries, Maaike C., Williams, Monique, Heijboer, Annemieke C., Kemper, Evelien A., Bosch, Annet M.

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The galactosemia network (GalNet) von Rubio-Gozalbo, M. E., Bosch, A. M., Burlina, A., Berry, G. T., Treacy, E. P.

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Bone metabolism in galactosemia von Panis, B., Forget, P.Ph, van Kroonenburgh, M.J.P.G., Vermeer, C., Menheere, P.P., Nieman, F.H., Rubio-Gozalbo, M.E.

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Proposal for the prevention of osteoporosis in paediatric patients with classical galactosaemia von Panis, B, van Kroonenburgh, M. J. P. G, Rubio-Gozalbo, M. E

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Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis von Grünewald, S., Imbach, T., Huijben, K., Rubio-Gozalbo, M. E., Verrips, A., De Klerk, J. B. C., Stroink, H., De Rijk-Van Andel, J. F., Van Hove, J. L. K., Wendel, U., Matthijs, G., Hennet, T., Jaeken, J., Wevers, R. A.

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Development of tools to facilitate the diagnosis of hereditary fructose intolerance von Panis, Bianca, Janssen, Lise E F, Lefeber, Dirk J, Simons, Nynke, Rubio-Gozalbo, M Estela, Brouwers, Martijn C G J

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Bone mineral density in patients with classic galactosaemia von Rubio-Gozalbo, M E, Hamming, S, van Kroonenburgh, M J P G, Bakker, J A, Vermeer, C, Forget, P Ph

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Neuroleptic malignant syndrome during zuclopenthixol therapy in X‐linked cerebral adrenoleukodystrophy von Rubio‐Gozalbo, M. E., Waardenburg, D. A., Forget, P. P., Spaapen, L. J. M., Verrips, A., Vroomen, P. C. A. J.

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

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Systemic Infantile Complex I Deficiency with Fatal Outcome in Two Brothers von Rubio-Cozalbo, M. E., Ruitenbeek, W., Wendel, U., Sengers, R. C., Trijbels, J. M., Smeitink, J. A.

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The natural history of classic galactosemia: lessons from the GalNet registry von Rubio-Gozalbo, M E, Haskovic, M, Häberle, J, Hochuli, M, Tran, C, Gautschi, M

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I von Triepels, R. H., Van Den Heuvel, L. P., Loeffen, J. L. C. M., Buskens, C. A. F., Smeets, R. J. P., Rubio Gozalbo, M. E., Budde, S. M. S., Mariman, E. C., Wijburg, F. A., Barth, P. G., Trijbels, J. M. F., Smeitink, J. A. M.

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Gonadal function in male and female patients with classic galactosemia von Rubio-Gozalbo, M.E., Gubbels, C.S., Bakker, J.A., Menheere, P.P.C.A., Wodzig, W.K.W.H., Land, J.A.

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Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5 von Badeloe, S., Van Geel, M., Nagtzaam, I., Rubio-Gozalbo, M.E., Oei, R.L., Steijlen, P.M., Van Steensel, M.A.M.

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Carnitine-acylcarnitine translocase deficiency: case report and review of the literature von Rubio-Gozalbo, ME, Vos, P, Forget, PPh, Van Der Meer, SB, Wanders, RJA, Waterham, HR, Bakker, JA

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Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation von van Eijsden, R G E, Eijssen, L M T, Lindsey, P J, van den Burg, C M M, de Wit, L E A, Rubio-Gozalbo, M E, de Die, C E M, Ayoubi, T, Sluiter, W, de Coo, I F M, Smeets, H J M

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Body composition in children with galactosaemia von Panis, B., Forget, P. Ph, Nieman, F. H., Kroonenburgh, M. J. P. G., RubioGozalbo, M. E.

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