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.
Published in Journal of inherited metabolic disease (01.07.2013)
Published in Journal of inherited metabolic disease (01.07.2013)
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Journal Article
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
Kuiper, Anouk, Grünewald, Stephanie, Murphy, Elaine, Coenen, Maraike A., Eggink, Hendriekje, Zutt, Rodi, Rubio‐Gozalbo, Maria E., Bosch, Annet M., Williams, Monique, Derks, Terry G. J., Lachmann, Robin H. L., Brouwers, Martijn C. G. J., Janssen, Mirian C. H., Tijssen, Marina A., de Koning, Tom J.
Published in Journal of inherited metabolic disease (01.05.2019)
Published in Journal of inherited metabolic disease (01.05.2019)
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Journal Article
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
Published in Orphanet journal of rare diseases (18.05.2016)
Published in Orphanet journal of rare diseases (18.05.2016)
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Journal Article
Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)
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.
Published in Journal of inherited metabolic disease (01.05.2014)
Published in Journal of inherited metabolic disease (01.05.2014)
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Journal Article
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
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.
Published in JIMD reports (01.07.2020)
Published in JIMD reports (01.07.2020)
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Journal Article
The galactosemia network (GalNet)
Rubio-Gozalbo, M. E., Bosch, A. M., Burlina, A., Berry, G. T., Treacy, E. P.
Published in Journal of inherited metabolic disease (01.03.2017)
Published in Journal of inherited metabolic disease (01.03.2017)
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Journal Article
The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria
Hoeksma, M., Van Rijn, M., Verkerk, P. H., Bosch, A. M., Mulder, M. F., Klerk, J. B. C., De Koning, T. J., Rubio‐Gozalbo, E., De Vries, M., Sauer, P. J. J., Spronsen, F. J.
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
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
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
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.
Published in Osteoporosis international (01.02.2013)
Published in Osteoporosis international (01.02.2013)
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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
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
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
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
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.
Published in Annals of neurology (01.06.1999)
Published in Annals of neurology (01.06.1999)
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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
Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5
Badeloe, S., Van Geel, M., Nagtzaam, I., Rubio-Gozalbo, M.E., Oei, R.L., Steijlen, P.M., Van Steensel, M.A.M.
Published in British journal of dermatology (1951) (01.06.2008)
Published in British journal of dermatology (1951) (01.06.2008)
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Journal Article
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome
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.
Published in Clinical nutrition (Edinburgh, Scotland) (01.05.2021)
Published in Clinical nutrition (Edinburgh, Scotland) (01.05.2021)
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Journal Article
N-Glycan Abnormalities in Children with Galactosemia
Coss, Karen P, Hawkes, Colin P, Adamczyk, Barbara, Stöckmann, Henning, Crushell, Ellen, Saldova, Radka, Knerr, Ina, Rubio-Gozalbo, Maria E, Monavari, Ardeshir A, Rudd, Pauline M, Treacy, Eileen P
Published in Journal of proteome research (07.02.2014)
Published in Journal of proteome research (07.02.2014)
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