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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

The natural history of classic galactosemia: lessons from the GalNet registry

Rubio-Gozalbo, M. E., Haskovic, M., Bosch, A. M., Burnyte, B., Coelho, A. I., Cassiman, D., Couce, M. L., Dawson, C., Demirbas, D., Derks, T., Eyskens, F., Forga, M. T., Grunewald, S., Häberle, J., Ho

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 838 KB

english, 2019

3

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

4

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

5

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

6

Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy

M.E. Rubio-Gozalbo, D.A. van Waardenburg, P.P. Forget, L.J.M. Spaapen, A. Verrips, P.C.A.J. Vroomen

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 35 KB

english, 2001

7

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

8

A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing

Sollie, Annet, Sijmons, Rolf H., Lindhout, Dick, van der Ploeg, Ans T., Rubio Gozalbo, M. Estela, Smit, G. Peter A., Verheijen, Frans, Waterham, Hans R., van Weely, Sonja, Wijburg, Frits A., Wijburg,

Journal:

Year:

2013

Language:

english

File:

PDF, 331 KB

english, 2013

9

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,

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 1.71 MB

english, 2016

10

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

Anjema, Karen, Hofstede, Floris C., Bosch, Annet M., Rubio–Gozalbo, M. Estela, de Vries, Maaike C., Boelen, Carolien C.A., van Rijn, Margreet, van Spronsen, Francjan J.

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 470 KB

english, 2016

11

The galactosemia network (GalNet)

Rubio-Gozalbo, M. E., Bosch, A. M., Burlina, A., Berry, G. T., Treacy, E. P.

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 231 KB

english, 2017

12

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

13

Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions

Colhoun, Hugh-Owen, Rubio Gozalbo, Estela M., Bosch, Annet M., Knerr, Ina, Dawson, Charlotte, Brady, Jennifer, Galligan, Marie, Stepien, Karolina, O’Flaherty, Roisin, Catherine Moss, C., Peter Barker,

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1.62 MB

english, 2018

14

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

Welsink-Karssies, Mendy M., Oostrom, Kim J., Hermans, Merel E., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Oussoren, Esmee, Gozalbo, M. Estela Rubio, de Vries, Maaike, Geurtse

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 927 KB

2020

15

Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

Welsink-Karssies, Mendy M., Oostrom, Kim J., Hermans, Merel E., Hollak, Carla E. M., Janssen, Mirian C. H., Langendonk, Janneke G., Oussoren, Esmee, Rubio Gozalbo, M. Estela, de Vries, Maaike, Geurtse

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.37 MB

2020

16

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations

M.E. Rubio-Gozalbo, K.P. Dijkman, L.P. van den Heuvel, R.C.A. Sengers, U. Wendel, J.A.M. Smeitink

Journal:

Year:

2000

Language:

english

File:

PDF, 255 KB

english, 2000

17

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

R. H. Triepels, L. P. Van Den Heuvel, J. L. C. M. Loeffen, C. A. F. Buskens, R. J. P. Smeets, M. E. Rubio Gozalbo, S. M. S. Budde, E. C. Mariman, F. A. Wijburg, P. G. Barth, J. M. F. Trijbels, J. A. M

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 1.38 MB

english, 1999

18

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

19

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

S. Grünewald, T. Imbach, K. Huijben, M. E. Rubio-Gozalbo, A. Verrips, J. B. C. De Klerk, H. Stroink, J. F. De Rijk-Van Andel, J. L. K. Van Hove, U. Wendel, G. Matthijs, T. Hennet, J. Jaeken, R. A. Wev

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 1.26 MB

english, 2000

20

Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency

M.E Rubio-Gozalbo, A Heerschap, J.M.F Trijbels, L.De Meirleir, H.O.M Thijssen, J.A.M Smeitink

Journal:

Magnetic Resonance Imaging

Year:

1999

Language:

english

File:

PDF, 180 KB

english, 1999

21

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation and ocular abnormalities

H. D. Bakker, M. E. Rubio Gozalbo, A. H. Gennip

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 124 KB

english, 1994

22

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

23

Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV

M. E. Rubio-Gozalbo, W. Ruitenbeek, H. A. C. M. Bentlage, H. Schägger, R. C. A. Sengers, J. M. F. Trijbels, H. J. ter Laak, E. C. M. Mariman, M. M. Bakker, J. de Jager, J. A. M. Smeitink

Journal:

European Journal of Pediatrics

Year:

1997

Language:

english

File:

PDF, 302 KB

english, 1997

24

The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria

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

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 144 KB

english, 2005

25

Proposal for the prevention of osteoporosis in paediatric patients with classical galactosaemia

B. Panis, M. J. P. G. van Kroonenburgh, M. E. Rubio-Gozalbo

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 151 KB

english, 2007

26

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

27

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

28

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

29

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

30

Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency

L. Tabatabaie, L. W. J. Klomp, M. E. Rubio-Gozalbo, L. J. M. Spaapen, A. A. M. Haagen, L. Dorland, T. J. de Koning

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 88 KB

english, 2011

31

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

32

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

33

Chanarin–Dorfman syndrome caused by a novel splice site mutation in ABHD5

S. Badeloe, M. Van Geel, I. Nagtzaam, M.E. Rubio-Gozalbo, R.L. Oei, P.M. Steijlen, M.A.M. Van Steensel

Journal:

British Journal of Dermatology

Year:

2008

Language:

english

File:

PDF, 194 KB

english, 2008

34

MTO01 Chip-based MtDNA mutation screening enables fast and reliable genetic diagnosis of oxphos patients

R.I.F.M. de Coo, M. Gerards, R.G.E. van Eijsden, A.T.M. Hendrickx, F. Stassen, M.E. Rubio-Gozalbo, V. Tiranti, H.J.M. Smeets

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 44 KB

english, 2007

35

N-acetyl-glutamate synthetase deficiency or porto-systemic shunt associated encephalopathy?

R Dammers, ME Rubio-Gozalbo, SGF Robben, JA Bakker, LJM Spaapen, PPh Forget

Journal:

Acta Paediatrica

Year:

2002

Language:

english

File:

PDF, 121 KB

english, 2002

36

Carnitine-acylcarnitine translocase deficiency: case report and review of the literature

ME Rubio-Gozalbo, P Vos, PPh Forget, SB Van Der Meer, RJA Wanders, HR Waterham, JA Bakker

Journal:

Acta Paediatrica

Year:

2003

Language:

english

File:

PDF, 58 KB

english, 2003

37

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

38

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

39

Bone metabolism in galactosemia

B. Panis, P.Ph. Forget, M.J.P.G. van Kroonenburgh, C. Vermeer, P.P. Menheere, F.H. Nieman, M.E. Rubio-Gozalbo

Journal:

Year:

2004

Language:

english

File:

PDF, 108 KB

english, 2004

40

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

41

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

42

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

43

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

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

Carnitine–acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects

M.E. Rubio-Gozalbo, J.A. Bakker, H.R. Waterham, R.J.A. Wanders

Journal:

Molecular Aspects of Medicine

Year:

2004

Language:

english

File:

PDF, 185 KB

english, 2004

46

Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

H. Vlaardingerbroek, G. Hornstra, T.J. de Koning, J.A.M. Smeitink, H.D. Bakker, H.B.C. de Klerk, M.E. Rubio-Gozalbo

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 307 KB

english, 2006

47

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

48

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration

K. Anjema, G. Venema, F.C. Hofstede, E.C. Carbasius Weber, A.M. Bosch, N.M. Ter Horst, C.E.M. Hollak, C.F. Jonkers, M.E. Rubio–Gozalbo, E.M.C. van der Ploeg, M.C. de Vries, R.G. Janssen-Regelink, M.C.

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 491 KB

english, 2011

49

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

50

Skeletal health in adult patients with classic galactosemia

L. A. Batey, C. K. Welt, F. Rohr, A. Wessel, V. Anastasoaie, H. A. Feldman, C.-Y. Guo, E. Rubio-Gozalbo, G. Berry, C. M. Gordon

Journal:

Osteoporosis International

Year:

2013

Language:

english

File:

PDF, 744 KB

english, 2013

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