Rubio-Gozalbo, M Estela: search on Z-Library

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1

Galactose metabolism and health

Coelho, Ana I., Berry, Gerard T., Rubio-Gozalbo, M. Estela

Journal:

Current Opinion in Clinical Nutrition & Metabolic Care

Year:

2015

Language:

english

File:

PDF, 268 KB

english, 2015

2

Response to the Letter to the Editor Regarding “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.

Journal:

Annals of Nutrition & Metabolism

Year:

2018

Language:

english

File:

PDF, 45 KB

english, 2018

3

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

Catharina M L Touw, G Peter A Smit, Maaike de Vries, Johannis B C de Klerk, Annet M Bosch, Gepke Visser, Margot F Mulder, M Estela Rubio-Gozalbo, Bert Elvers, Klary E Niezen-Koning, Ronald J A Wanders

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 260 KB

english, 2012

4

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life

Amber E. ten Hoedt, Heleen Maurice-Stam, Carolien C. A. Boelen, M. Estela Rubio-Gozalbo, Francjan J. van Spronsen, Frits A. Wijburg, Annet M. Bosch, Martha A. Grootenhuis

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 139 KB

english, 2011

5

High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial

Amber E. ten Hoedt, Leo M. J. de Sonneville, Baudouin Francois, Nienke M. ter Horst, Mirian C. H. Janssen, M. Estela Rubio-Gozalbo, Frits A. Wijburg, Carla E. M. Hollak, Annet M. Bosch

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 154 KB

english, 2011

6

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.

Journal:

Annals of Nutrition & Metabolism

Year:

2017

Language:

english

File:

PDF, 132 KB

english, 2017

7

Psychosocial developmental milestones in men with classic galactosemia

Cynthia Sophia Gubbels, Heleen Maurice-Stam, Gerard Thomas Berry, Annet Maria Bosch, Susan Waisbren, Maria Estela Rubio-Gozalbo, Martha Alexandra Grootenhuis

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 106 KB

english, 2011

8

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects

Haskovic, M., Poot, W. J., van Golde, R. J. T., Benneheij, S. H., Oussoren, E., de Wert, G. M. W. R., Krumeich, A., Rubio-Gozalbo, M. Estela

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 395 KB

english, 2018

9

Language production and working memory in classic galactosemia from a cognitive neuroscience perspective: future research directions

Inge Timmers, Job van den Hurk, Francesco Di Salle, M. Estela Rubio-Gozalbo, Bernadette M. Jansma

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 361 KB

english, 2011

10

Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., de Sou

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

11

Direct non-radioactive assay of galactose-1-phosphate:uridyltransferase activity using high performance liquid chromatography

Martijn Lindhout, M. Estela Rubio-Gozalbo, Jaap A. Bakker, Jörgen Bierau

Journal:

Clinica Chimica Acta

Year:

2010

Language:

english

File:

PDF, 296 KB

english, 2010

12

Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis

Maratha, Ashwini, Stockmann, Henning, Coss, Karen P, Estela Rubio-Gozalbo, M, Knerr, Ina, Fitzgibbon, Maria, McVeigh, Terri P, Foley, Patricia, Moss, Catherine, Colhoun, Hugh-Owen, van Erven, Britt, S

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 2.27 MB

english, 2016

13

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 365 KB

english, 2016

14

The adult galactosemic phenotype

Susan E. Waisbren, Nancy L. Potter, Catherine M. Gordon, Robert C. Green, Patricia Greenstein, Cynthia S. Gubbels, Estela Rubio-Gozalbo, Donald Schomer, Corrine Welt, Vera Anastasoaie, Kali D’Anna, Je

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 154 KB

english, 2012

15

Grey matter density decreases as well as increases in patients with classic galactosemia: A voxel-based morphometry study

Timmers, Inge, van der Korput, Lisanne D., Jansma, Bernadette M., Rubio-Gozalbo, M. Estela

Journal:

Year:

2016

Language:

english

File:

PDF, 408 KB

english, 2016

16

Sweet and sour: an update on classic galactosemia

Coelho, Ana I., Rubio-Gozalbo, M. Estela, Vicente, João B., Rivera, Isabel

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 1008 KB

english, 2017

17

The endocrine system in treated patients with classical galactosemia

M. Estela Rubio-Gozalbo, Bianca Panis, Luc J.I. Zimmermann, Leo J. Spaapen, P.P.C.A. Menheere

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 211 KB

english, 2006

18

Fatal cerebral edema associated with serine deficiency in CSF

Keularts, Irene M. L. W., Leroy, Piet L. J. M., Rubio-Gozalbo, Estela M., Spaapen, Leo J. M., Weber, Biene, Dorland, Bert, Koning, Tom J., Verhoeven-Duif, Nanda M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 127 KB

english, 2010

19

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

Morava, Eva, Tiemes, Vera, Tiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., de Souz

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 505 KB

english, 2016

20

Classic galactosemia: Study on the late prenatal development of GALT specific activity in a sheep model

Coelho, Ana I., Bierau, Jörgen, Lindhout, Martijn, Achten, Jelle, Kramer, Boris W., Estela Rubio-Gozalbo, M.

Journal:

The Anatomical Record

Year:

2017

Language:

english

File:

PDF, 766 KB

english, 2017

21

Impaired fertility and motor function in a zebrafish model for classic galactosemia

Vanoevelen, Jo M., van Erven, Britt, Bierau, Jörgen, Huang, Xiaoping, Berry, Gerard T., Vos, Rein, Coelho, Ana I., Rubio-Gozalbo, M. Estela

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

22

Effect of calcium, vitamins K1 and D3 on bone in galactosemia

Bianca Panis, Cees Vermeer, Marinus J.P.G. van Kroonenburgh, Fred H.M. Nieman, Paul P.C.A. Menheere, Leo J. Spaapen, M. Estela Rubio-Gozalbo

Journal:

Year:

2006

Language:

english

File:

PDF, 112 KB

english, 2006

23

Untreated classical galactosemia patient with mild phenotype

Bianca Panis, Jaap A. Bakker, Jean-Pierre J.E. Sels, Leo J.M. Spaapen, Luc J.C. van Loon, M. Estela Rubio-Gozalbo

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 105 KB

english, 2006

24

White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging

Timmers, Inge, Zhang, Hui, Bastiani, Matteo, Jansma, Bernadette M., Roebroeck, Alard, Rubio-Gozalbo, M. Estela

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 3.40 MB

english, 2015

25

Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia

van Erven, Britt, Jansma, Bernadette M., Rubio-Gozalbo, M. Estela, Timmers, Inge

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 3.01 MB

english, 2017

26

Growth in treated classical galactosemia patients

Bianca Panis, Willem-Jan M. Gerver, M. Estela Rubio-Gozalbo

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 115 KB

english, 2007

27

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Liemburg, Geertje B., Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M.J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 242 KB

english, 2015

28

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control

Peeks, Fabian, Steunenberg, Thomas A. H., de Boer, Foekje, Rubio-Gozalbo, M. Estela, Williams, Monique, Burghard, Rob, Rajas, Fabienne, Oosterveer, Maaike H., Weinstein, David A., Derks, Terry G. J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 420 KB

english, 2017

29

Simvastatin and plasma very-long-chain fatty acids in X-linked adrenoleukodystrophy

Aad Verrips, Michèl A. A. P. Willemsen, Estela Rubio-Gozalbo, Jan De Jong, Jan A. M. Smeitink

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 598 KB

english, 2000

30

Assessing Microstructural Substrates of White Matter Abnormalities: A Comparative Study Using DTI and NODDI

Timmers, Inge, Roebroeck, Alard, Bastiani, Matteo, Jansma, Bernadette, Rubio-Gozalbo, Estela, Zhang, Hui, Yap, Pew-Thian

Journal:

Year:

2016

Language:

english

File:

PDF, 3.36 MB

english, 2016

31

Reply of the Authors: Measures of ovarian function in galactosemia

Cynthia S. Gubbels, Paul P. Menheere, M. Estela Rubio-Gozalbo

Journal:

Fertility and Sterility

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

32

Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion

Gubbels, Cynthia S., Land, Jolande A., Evers, Johannes L. H., Bierau, Jörgen, Menheere, Paul P. C. A., Robben, Simon G. F., Rubio-Gozalbo, M. Estela

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 132 KB

english, 2013

33

A specific immunoprecipitation method for isolating isoforms of insulin-like growth factor binding protein-3 from serum

Judith A.P. Bons, Etienne C.H.J. Michielsen, Douwe de Boer, Freek G. Bouwman, Jaak Jaeken, Marja P. van Dieijen-Visser, M. Estela Rubio-Gozalbo, Will K.W.H. Wodzig

Journal:

Clinica Chimica Acta

Year:

2008

Language:

english

File:

PDF, 366 KB

english, 2008

34

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art

Leo J.M Spaapen, M Estela Rubio-Gozalbo

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 197 KB

english, 2003

35

Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study

Demirdas, Serwet, Maurice-Stam, Heleen, Boelen, Carolien C.A., Hofstede, Floris C., Janssen, Mirian C.H., Langendonk, Janneke G., Mulder, Margot F., Rubio-Gozalbo, M. Estela, van Spronsen, Francjan J.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 325 KB

english, 2013

36

Carbamoyl Phosphate Synthetase Polymorphisms as a Risk Factor for Necrotizing Enterocolitis

Moonen, Rob M J, Paulussen, Aimee D C, Souren, Nicole Y P, Kessels, Alfons G H, Rubio-Gozalbo, M Estela, Villamor, Eduardo

Journal:

Pediatric Research

Year:

2007

Language:

english

File:

PDF, 111 KB

english, 2007

37

Affected functional networks associated with sentence production in classic galactosemia

Timmers, Inge, van den Hurk, Job, Hofman, Paul AM, Zimmermann, Luc JI, Uludağ, Kâmil, Jansma, Bernadette M, Rubio-Gozalbo, M Estela

Journal:

Year:

2015

Language:

english

File:

PDF, 4.10 MB

english, 2015

38

New treatment strategy for Smith-Lemli-Opitz syndrome

Petr Jira, Ron Wevers, Jan de Jong, Estela Rubio-Gozalbo, Jan Smeitink

Journal:

Year:

1997

Language:

english

File:

PDF, 19 KB

english, 1997

39

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

Jahja, Rianne, van Spronsen, Francjan J., de Sonneville, Leo M. J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., Hofstede, Floris

Journal:

Behavior Genetics

Year:

2017

Language:

english

File:

PDF, 736 KB

english, 2017

40

Phenylalanine tolerance can already reliably be assessed at the age of 2

F. J. van Spronsen, M. van Rijn, B. Dorgelo, M. Hoeksma, A. M. Bosch, M. F. Mulder, J. B. C. de Klerk, T. de Koning, M. Estela Rubio-Gozalbo, M. de Vries, P. H. Verkerk

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 261 KB

english, 2009

41

Fertility and Impact of Pregnancies on the Mother and Child in Classic Galactosemia

Gubbels, Cynthia S., Land, Jolande A., Rubio-Gozalbo, M Estela

Journal:

Obstetric and Gynecologic Survey

Year:

2008

Language:

english

File:

PDF, 362 KB

english, 2008

42

Galactokinase deficiency: lessons from the GalNet registry

Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, MÃ¶slinger, Dorothea, Couce, M. Luz, Empain, AurÃ©lie, Ficicioglu, Can, JuliÃ¡ Palacios, Natalia, De Los Santos De Pelegrin, Mari

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 564 KB

2020

43

Ovarian function in girls and women with GALT-deficiency galactosemia

Judith L. Fridovich-Keil, Cynthia S. Gubbels, Jessica B. Spencer, Rebecca D. Sanders, Jolande A. Land, Estela Rubio-Gozalbo

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 202 KB

english, 2011

44

Reply of the Authors: Do patients with heterozygote mutations in GALT gene have increased risk for impaired reproductive functions?

Cynthia S. Gubbels, M. Estela Rubio-Gozalbo

Journal:

Fertility and Sterility

Year:

2009

Language:

english

File:

PDF, 33 KB

english, 2009

45

The male reproductive system in classic galactosemia: cryptorchidism and low semen volume

Gubbels, Cynthia S., Welt, Corrine K., Dumoulin, John C. M., Robben, Simon G. F., Gordon, Catherine M., Dunselman, Gerard A. J., Rubio-Gozalbo, M. Estela, Berry, Gerard T.

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 146 KB

english, 2013

46

Hip Morphology in Mucolipidosis Type II

Ammer, Luise Sophie, Oussoren, Esmeralda, Muschol, Nicole Maria, Pohl, Sandra, Rubio-Gozalbo, Maria Estela, Santer, RenÃ©, Stuecker, Ralf, Vettorazzi, Eik, Breyer, Sandra Rafaela

Journal:

Journal of Clinical Medicine

Year:

2020

Language:

english

File:

PDF, 2.67 MB

english, 2020

47

FSH isoform pattern in classic galactosemia

Cynthia S. Gubbels, Chris M. G. Thomas, Will K. W. H. Wodzig, André J. Olthaar, Jaak Jaeken, Fred C. G. J. Sweep, M. Estela Rubio-Gozalbo

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 375 KB

english, 2011

48

Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone

Cynthia S. Gubbels, Simone M.I. Kuppens, Jaap A. Bakker, Constantijn J.A.M. Konings, K. Will Wodzig, Monique G.M. de Sain–van der Velden, Paul P. Menheere, M. Estela Rubio-Gozalbo

Journal:

Fertility and Sterility

Year:

2009

Language:

english

File:

PDF, 90 KB

english, 2009

49

Mental health and social functioning in early treated Phenylketonuria: The PKU-COBESO study

Jahja, Rianne, Huijbregts, Stephan C.J., de Sonneville, Leo M.J., van der Meere, Jaap J., Bosch, Annet M., Hollak, Carla E.M., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C.G.J., Hofstede, Floris C.,

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 214 KB

english, 2013

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