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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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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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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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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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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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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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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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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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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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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Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency von RUBIO-GOZALBO, M. E, SMEITINK, J. A. M, RUITENBEEK, W, LAAK, T, MULLAART, R. A, SCHUELKE, M, MARIMAN, E. C. M, SENGERS, R. C. A, GABREËLS, F. J. M

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Carnitine–acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects von Rubio-Gozalbo, M.E., Bakker, J.A., Waterham, H.R., Wanders, R.J.A.

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Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency von Rubio-Gozalbo, M.E, Heerschap, A, Trijbels, J.M.F, Meirleir, L.De, Thijssen, H.O.M, Smeitink, J.A.M

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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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Adducted thumbs: A clinical clue to genetic diagnosis von 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

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