Search Results - "Rubio–Gozalbo, M.E."

Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5 by 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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Adducted thumbs: A clinical clue to genetic diagnosis by 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

“…Abstract Adducted thumbs are an uncommon congenital malformation. It can be an important clinical clue in genetic syndromes, e.g. the L1 syndrome. A…”
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A Survey of Natural Protein Intake in Dutch Phenylketonuria Patients: Insight into Estimation or Measurement of Dietary Intake by van Rijn, Margreet, PhD, RD, Jansma, Jolanda, RN, MSc, Brinksma, Aeltsje, RN, MScN, Bakker, H.D., MD, PhD, Boers, G.H.J., MD, PhD, Carbasius-Weber, E., RD, Douwes, A.C., MD, PhD, van den Herberg, A., RD, ter Horst, N.M., RD, de Klerk, J.B.C., MD, de Koning, T.J., MD, PhD, van den Ploeg, L., RD, Rubio-Gozalbo, M.E., MD, PhD, Sels, J.P., MD, PhD, Sengers, R.C.A., MD, PhD, de Valk, H.W., MD, PhD, Termeulen, H., RD, Zweers, H., RD, van Spronsen, Francjan J., MD, PhD

“…Abstract This study investigated which methods patients and parents used to determine phenylalanine (Phe) intake and the relationship between the methods…”
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MTO01 Chip-based MtDNA mutation screening enables fast and reliable genetic diagnosis of oxphos patients by de Coo, R.I.F.M, Gerards, M, van Eijsden, R.G.E, Hendrickx, A.T.M, Stassen, F, Rubio-Gozalbo, M.E, Tiranti, V, Smeets, H.J.M

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Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations by Rubio-Gozalbo, M.E., Dijkman, K.P., van den Heuvel, L.P., Sengers, R.C.A., Wendel, U., Smeitink, J.A.M.

“…Defects in oxidative phosphorylation (OXPHOS) are genetically unique because the different components involved in this process, respiratory chain enzyme…”
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High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome by 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.

“…Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades,…”
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Gonadal function in male and female patients with classic galactosemia by Rubio-Gozalbo, M.E., Gubbels, C.S., Bakker, J.A., Menheere, P.P.C.A., Wodzig, W.K.W.H., Land, J.A.

“…BACKGROUND Hypergonadotropic hypoestrogenic infertility is the most burdensome complication for females suffering from classic galactosemia. In contrast, male…”
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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 by 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.

“…Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness…”
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Carnitine–acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects by Rubio-Gozalbo, M.E., Bakker, J.A., Waterham, H.R., Wanders, R.J.A.

“…The carnitine–acylcarnitine translocase (CACT) is one of the components of the carnitine cycle. The carnitine cycle is necessary to shuttle long-chain fatty…”
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Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism by Vlaardingerbroek, H., Hornstra, G., de Koning, T.J., Smeitink, J.A.M., Bakker, H.D., de Klerk, H.B.C., Rubio-Gozalbo, M.E.

“…Essential fatty acids (EFAs), and their longer-chain more-unsaturated derivatives (LCPUFAs) in particular, are essential for normal growth and cognitive…”
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Bone metabolism in galactosemia by Panis, B., Forget, P.Ph, van Kroonenburgh, M.J.P.G., Vermeer, C., Menheere, P.P., Nieman, F.H., Rubio-Gozalbo, M.E.

“…Classical galactosemia is an autosomal recessively inherited disorder of galactose metabolism. Treatment consists of life-long dietary restriction of…”
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The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration by Anjema, K., Venema, G., Hofstede, F.C., Carbasius Weber, E.C., Bosch, A.M., Ter Horst, N.M., Hollak, C.E.M., Jonkers, C.F., Rubio–Gozalbo, M.E., van der Ploeg, E.M.C., de Vries, M.C., Janssen-Regelink, R.G., Janssen, M.C.H., Zweers-van Essen, H., Boelen, C.C.A., van der Herberg-van de Wetering, N.A.P., Heiner-Fokkema, M.R., van Rijn, M., van Spronsen, F.J.

“…The 24- and 48-hour tetrahydrobiopterin (BH4) loading test (BLT) performed at a minimum baseline phenylalanine concentration of 400 μmol/l is commonly used to…”
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Disorder in the serotonergic system due to tryptophan hydroxylation impairment: a cause of hypothalamic syndrome? by Schott, D A, Nicolai, J, de Vries, J E, Keularts, I M L W, Rubio-Gozalbo, M E, Gerver, W J M

“…The hypothalamus regulates basic homeostasis such as appetite, circadian rhythm, autonomic and pituitary functions. Dysregulation in these functions results in…”
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Bone mineral density in patients with classic galactosaemia by Rubio-Gozalbo, M E, Hamming, S, van Kroonenburgh, M J P G, Bakker, J A, Vermeer, C, Forget, P Ph

“…Background: Diminished bone mineral density (BMD) is a well known complication in women with classic galactosaemia caused by premature ovarian failure…”
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Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency by 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

“…The authors report a child with a spinal muscular atrophy (SMA)-like picture, cardiomyopathy, and cytochrome c oxidase (COX) deficiency. Electromyography and…”
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Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency by Rubio-Gozalbo, M.E, Heerschap, A, Trijbels, J.M.F, Meirleir, L.De, Thijssen, H.O.M, Smeitink, J.A.M

“…The purpose of this study was the non-invasive quantitative determination by proton MR Spectroscopy ( 1H MRS) of alterations in cerebral metabolism in a…”
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