Carnitine-acylcarnitine translocase deficiency: case report and review of the literature
Rubio-Gozalbo, ME, Vos, P, Forget, PPh, Van Der Meer, SB, Wanders, RJA, Waterham, HR, Bakker, JA
Published in Acta Paediatrica (01.04.2003)
Published in Acta Paediatrica (01.04.2003)
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Journal Article
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
Falkenberg, Kim D., Braverman, Nancy E., Moser, Ann B., Steinberg, Steven J., Klouwer, Femke C.C., Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Engvall, Martin, Naess, Karin, van Spronsen, FrancJan, Körver-Keularts, Irene, Rubio-Gozalbo, M. Estela, Ferdinandusse, Sacha, Wanders, Ronald J.A., Waterham, Hans R.
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
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Journal Article
N-acetyl-glutamate synthetase deficiency or porto-systemic shunt associated encephalopathy?
Dammers, R, Rubio-Gozalbo, ME, Robben, SGF, Bakker, JA, Spaapen, LJM, Forget, PPh
Published in Acta Paediatrica (01.01.2002)
Published in Acta Paediatrica (01.01.2002)
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Journal Article
Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria
Demirdas, Serwet, van Spronsen, Francjan J., Hollak, Carla E.M., van der Lee, J. Hanneke, Bisschop, Peter H., Vaz, Fred M., ter Horst, Nienke M., Rubio-Gozalbo, M. Estela, Bosch, Annet M.
Published in Annals of nutrition and metabolism (01.01.2017)
Published in Annals of nutrition and metabolism (01.01.2017)
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Journal Article
Bone metabolism in galactosemia
Panis, B., Forget, P.Ph, van Kroonenburgh, M.J.P.G., Vermeer, C., Menheere, P.P., Nieman, F.H., Rubio-Gozalbo, M.E.
Published in Bone (New York, N.Y.) (01.10.2004)
Published in Bone (New York, N.Y.) (01.10.2004)
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Journal Article
Effect of calcium, vitamins K sub(1) and D sub(3) on bone in galactosemia
Panis, B, Vermeer, C, van Kroonenburgh, MJPG, Nieman, FHM, Menheere, PPCA, Spaapen, L J, Rubio-Gozalbo, ME
Published in Bone (New York, N.Y.) (01.11.2006)
Published in Bone (New York, N.Y.) (01.11.2006)
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Journal Article
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art
Spaapen, Leo J.M, Estela Rubio-Gozalbo, M
Published in Molecular Genetics and Metabolism (01.02.2003)
Published in Molecular Genetics and Metabolism (01.02.2003)
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Book Review
Journal Article
Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients
Van Eijsden, Rudy G.E., Gerards, Mike, Eijssen, Lars M.T., Hendrickx, Alexandra T.M., Jongbloed, Roselie J.E., Wokke, John H.J., Hintzen, Rogier Q., Rubio-Gozalbo, Maria E., De Coo, Irenaeus F.M., Briem, Egill, Tiranti, Valeria, Smeets, Hubert J.M.
Published in Genetics in medicine (01.10.2006)
Published in Genetics in medicine (01.10.2006)
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Journal Article
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
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.
Published in Annals of neurology (01.06.2000)
Published in Annals of neurology (01.06.2000)
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Journal Article
Bone mineral density in patients with classic galactosaemia
Rubio-Gozalbo, M E, Hamming, S, van Kroonenburgh, M J P G, Bakker, J A, Vermeer, C, Forget, P Ph
Published in Archives of disease in childhood (01.07.2002)
Published in Archives of disease in childhood (01.07.2002)
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Journal Article
Body composition in children with galactosaemia
Panis, B., Forget, P. Ph, Nieman, F. H., Kroonenburgh, M. J. P. G., RubioGozalbo, M. E.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Journal Article
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency
Rubio-Gozalbo, M E, Smeitink, J A, Ruitenbeek, W, Ter Laak, H, Mullaart, R A, Schuelke, M, Mariman, E C, Sengers, R C, Gabreëls, F J
Published in Neurology (15.01.1999)
Published in Neurology (15.01.1999)
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Journal Article
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency
Rubio-Gozalbo, M.E, Heerschap, A, Trijbels, J.M.F, Meirleir, L.De, Thijssen, H.O.M, Smeitink, J.A.M
Published in Magnetic resonance imaging (01.07.1999)
Published in Magnetic resonance imaging (01.07.1999)
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Journal Article
Neuroleptic malignant syndrome during zuclopenthixol therapy in X‐linked cerebral adrenoleukodystrophy
Rubio‐Gozalbo, M. E., Waardenburg, D. A., Forget, P. P., Spaapen, L. J. M., Verrips, A., Vroomen, P. C. A. J.
Published in Journal of inherited metabolic disease (01.10.2001)
Published in Journal of inherited metabolic disease (01.10.2001)
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Journal Article
A prognostic index as diagnostic strategy in children suspected of mitochondriocytopathy
Rubio-Gozalbo, M E, Sengers, R C, Trijbels, J M, Doesburg, W H, Janssen, A J, Verbeek, A L, Smeitink, J A
Published in Neuropediatrics (01.06.2000)
Published in Neuropediatrics (01.06.2000)
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Journal Article
Systemic infantile complex I deficiency with fatal outcome in two brothers
Rubio-Gozalbo, M E, Ruitenbeek, W, Wendel, U, Sengers, R C, Trijbels, J M, Smeitink, J A
Published in Neuropediatrics (01.02.1998)
Published in Neuropediatrics (01.02.1998)
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