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1

Principles of Nutrigenetics and Nutrigenomics || Riboflavin

Bosch, Annet M.

Year:

2020

File:

PDF, 184 KB

2020

2

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Annet M Bosch, Kevin Stroek, Nico G Abeling, Hans R Waterham, Lodewijk IJlst, Ronald JA Wanders

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 224 KB

english, 2012

3

Bone health in phenylketonuria: a systematic review and meta-analysis

Demirdas, Serwet, Coakley, Katie E, Bisschop, Peter H, Hollak, Carla E M, Bosch, Annet M, Singh, Rani H

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 3.40 MB

english, 2015

4

Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires

Regnault, Antoine, Burlina, Alberto, Cunningham, Amy, Bettiol, Esther, Moreau-Stucker, Flavie, Benmedjahed, Khadra, Bosch, Annet M

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 677 KB

english, 2015

5

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

Bosch, Annet M, Burlina, Alberto, Cunningham, Amy, Bettiol, Esther, Moreau-Stucker, Flavie, Koledova, Ekaterina, Benmedjahed, Khadra, Regnault, Antoine

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.03 MB

english, 2015

6

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

Hollak, Carla E. M., Biegstraaten, Marieke, Baumgartner, Matthias R., Belmatoug, Nadia, Bembi, Bruno, Bosch, Annet, Brouwers, Martijn, Dekker, Hanka, Dobbelaere, Dries, Engelen, Marc, Groenendijk, Mar

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 450 KB

english, 2016

7

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

8

Principles of Nutrigenetics and Nutrigenomics || Riboflavin

Bosch, Annet M.

Year:

2020

Language:

english

File:

PDF, 184 KB

english, 2020

9

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

Amber E ten Hoedt, Carla EM Hollak, Carolien CA Boelen, N Ada P van der Herberg-van de Wetering, Nienke M ter Horst, Cora F Jonkers, Frits A Wijburg, Annet M Bosch

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 572 KB

english, 2011

10

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

11

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

12

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

13

Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

Eggink, Hendriekje, Kuiper, Anouk, Peall, Kathryn J, Contarino, Maria, Bosch, Annet M, Post, Bart, Sival, Deborah A, Tijssen, Marina, de Koning, Tom J

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 366 KB

english, 2014

14

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

15

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

16

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study

Huijbregts, Stephan C.J., Bosch, Annet M., Simons, Quirine A., Jahja, Rianne, Brouwers, Martijn C.G.J., De Sonneville, Leo M.J., De Vries, Maaike C., Hofstede, Floris C., Hollak, Carla E.M., Janssen,

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 722 KB

english, 2018

17

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research

van Weeghel, Michel, Welling, Lindsey, Treacy, Eileen P., Wanders, Ronald J. A., Ferdinandusse, Sacha, Bosch, Annet M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 662 KB

english, 2018

18

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

19

Cognitive functioning in patients with classical galactosemia: a systematic review

Hermans, Merel E., Welsink-Karssies, Mendy M., Bosch, Annet M., Oostrom, Kim J., Geurtsen, Gert J.

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 798 KB

2019

20

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

Zeltner, Nina A., Welsink-Karssies, Mendy M., Landolt, Markus A., Bosshard-Bullinger, Dominique, Keller, Fabia, Bosch, Annet M., Groenendijk, Marike, Grünert, Sarah C., Karall, Daniela, Rettenbacher,

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 876 KB

english, 2019

21

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents

Zeltner, Nina A., Welsink-Karssies, Mendy M., Landolt, Markus A., Bosshard-Bullinger, Dominique, Keller, Fabia, Bosch, Annet M., Groenendijk, Marike, Grünert, Sarah C., Karall, Daniela, Rettenbacher,

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 876 KB

2019

22

Identification of novel mutations in classical galactosemia

Annet M. Bosch, Lodewijk IJlst, Wendy Oostheim, Joyce Mulders, Henk D. Bakker, Frits A. Wijburg, Ronald J.A. Wanders, Hans R. Waterham

Journal:

Year:

2005

Language:

english

File:

PDF, 177 KB

english, 2005

23

Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia – and review of the literature

Peter Schadewaldt, Hans-Werner Hammen, Loganathan Kamalanathan, Udo Wendel, Martin Schwarz, Annet M. Bosch, Nele Guion, Mirian Janssen, Godfried H. J. Boers

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 251 KB

english, 2009

24

Classical galactosaemia revisited

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 240 KB

english, 2006

25

Classic galactosemia: dietary dilemmas

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 85 KB

english, 2011

26

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

Annet M. Bosch, Nico G. G. M. Abeling, Lodewijk IJlst, Hennie Knoester, W. Ludo van der Pol, Alida E. M. Stroomer, Ronald J. Wanders, Gepke Visser, Frits A. Wijburg, Marinus Duran, Hans R. Waterham

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 114 KB

english, 2011

27

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

28

Alarmins S100A8 and S100A9 elicit a catabolic effect in human osteoarthritic chondrocytes that is dependent on Toll-like receptor 4

Rik F. P. Schelbergen, Arjen B. Blom, Martijn H. J. van den Bosch, Annet Slöetjes, Shahla Abdollahi-Roodsaz, B. Wim Schreurs, John S. Mort, Thomas Vogl, Johannes Roth, Wim B. van den Berg, Peter L. E.

Journal:

Arthritis & Rheumatism

Year:

2012

Language:

english

File:

PDF, 357 KB

english, 2012

29

Predicting health-related quality of life of parents of children with inherited metabolic diseases

Janneke Hatzmann, Marlies J Valstar, Annet M Bosch, Frits A Wijburg, Hugo SA Heymans, Martha A Grootenhuis

Journal:

Acta Paediatrica

Year:

2009

Language:

english

File:

PDF, 91 KB

english, 2009

30

Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia

Hidde H. Huidekoper, Annet M. Bosch, Saskia N. van der Crabben, Hans P. Sauerwein, Mariëtte T. Ackermans, Frits A. Wijburg

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 391 KB

english, 2005

31

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency

André B.P. van Kuilenburg, Judith Meijer, Doreen Dobritzsch, Rutger Meinsma, Marinus Duran, Bernhard Lohkamp, Lida Zoetekouw, Nico G.G.M. Abeling, Herman L.G. van Tinteren, Annet M. Bosch

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 1.20 MB

english, 2007

32

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening

Georgianne L. Arnold, Denise Salazar, Julie A. Neidich, Pim Suwannarat, Brett H. Graham, Uta Lichter-Konecki, Annet M. Bosch, Kristina Cusmano-Ozog, Greg Enns, Erica L. Wright, Brendan C. Lanpher, Nat

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 144 KB

english, 2012

33

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Jumbo-Lucioni, Patricia P., Garber, Kathryn, Kiel, John, Baric, Ivo, Berry, Gerard T., Bosch, Annet, Burlina, Alberto, Chiesa, Ana, Pico, Maria Luz Couce, Estrada, Sylvia C., Henderson, Howard, Leslie

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 2.46 MB

english, 2012

34

Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Jumbo-Lucioni, Patricia P., Garber, Kathryn, Kiel, John, Baric, Ivo, Berry, Gerard T., Bosch, Annet, Burlina, Alberto, Chiesa, Ana, Pico, Maria Luz Couce, Estrada, Sylvia C., Henderson, Howard, Leslie

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

35

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

36

The time consuming nature of phenylketonuria: A cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands

Eijgelshoven, Indra, Demirdas, Serwet, Smith, T. Alexander, van Loon, Jeanni M.T., Latour, Sabine, Bosch, Annet M.

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 408 KB

english, 2013

37

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures

de Roo, Marieke G.A., Abeling, Nico G.G.M., Majoie, Charles B., Bosch, Annet M., Koelman, Johannes H.T.M., Cobben, Jan M., Duran, Marinus, Poll-The, Bwee Tien

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 424 KB

english, 2014

38

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

39

Induction of Canonical Wnt Signaling by Synovial Overexpression of Selected Wnts Leads to Protease Activity and Early Osteoarthritis-Like Cartilage Damage

van den Bosch, Martijn H., Blom, Arjen B., Sloetjes, Annet W., Koenders, Marije I., van de Loo, Fons A., van den Berg, Wim B., van Lent, Peter L., van der Kraan, Peter M.

Journal:

The American Journal of Pathology

Year:

2015

Language:

english

File:

PDF, 3.79 MB

english, 2015

40

High LDL Levels Lead to Increased Synovial Inflammation and Accelerated Ectopic Bone Formation During Experimental Osteoarthritis

de Munter, Wouter, van den Bosch, Martijn H., Slöetjes, Annet W., Croce, Kevin J., Vogl, Thomas, Roth, Johannes, Koenders, Marije I., van de Loo, Fons A., van den Berg, Wim B., van der Kraan, Peter M.

Journal:

Osteoarthritis and Cartilage

Year:

2015

Language:

english

File:

PDF, 6.28 MB

english, 2015

41

Induction of Canonical Wnt Signaling by the Alarmins S100A8/A9 in Murine Knee Joints: Implications for Osteoarthritis

van den Bosch, Martijn H., Blom, Arjen B., Schelbergen, Rik F. P., Vogl, Thomas, Roth, Johannes P., Slöetjes, Annet W., van den Berg, Wim B., van der Kraan, Peter M., van Lent, Peter L. E. M.

Journal:

Arthritis & Rheumatology

Year:

2016

Language:

english

File:

PDF, 651 KB

english, 2016

42

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

Jaeger, Bregje, Bosch, Annet M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 475 KB

english, 2016

43

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

44

Abstracts: 10th Annual Conference of the International Society for Quality of Life Research (ISOQOL) || # 1213/Living with Classical Galactosemia

Martha A. Grootenhuis and Annet M. Bosch

Journal:

Quality of Life Research

Year:

2003

Language:

english

File:

PDF, 325 KB

english, 2003

45

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes

Welling, Lindsey, Boelen, Anita, Derks, Terry G.J., Schielen, Peter C.J.I., de Vries, Maaike, Williams, Monique, Wijburg, Frits A., Bosch, Annet M.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 268 KB

english, 2017

46

Key European guidelines for the diagnosis and management of patients with phenylketonuria

van Spronsen, Francjan J, van Wegberg, Annemiek MJ, Ahring, Kirsten, Bélanger-Quintana, Amaya, Blau, Nenad, Bosch, Annet M, Burlina, Alberto, Campistol, Jaime, Feillet, Francois, Giżewska, Maria, Huij

Journal:

The Lancet Diabetes & Endocrinology

Year:

2017

Language:

english

File:

PDF, 469 KB

english, 2017

47

SAT0006 High Systemic LDL Cholesterol Levels Lead to Synovial Activation and Strongly Accelerate Development of Ectopic Bone Formation During Experimental Osteoarthritis

de Munter, W., van den Bosch, M.H., Annet, S.W., Croce, K., Hogg, N., Vogl, T., Roth, J., van den Berg, W.B., van der Kraan, P.M., van Lent, P.L.

Journal:

Annals of the Rheumatic Diseases

Year:

2015

Language:

english

File:

PDF, 94 KB

english, 2015

48

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

49

Relapsing/remitting type 1 diabetes

van Megen, Kayleigh M., Spindler, Matthew P., Keij, Fleur M., Bosch, Ineke, Sprangers, Fleur, van Royen-Kerkhof, Annet, Nikolic, Tatjana, Roep, Bart O.

Journal:

Year:

2017

Language:

english

File:

PDF, 396 KB

english, 2017

50

Issues with European guidelines for phenylketonuria – Authors' reply

van Spronsen, Francjan J, van Wegberg, Annemiek M J, Ahring, Kirsten, Bélanger-Quintana, Amaya, Blau, Nenad, Bosch, Annet M, Burlina, Alberto, Campistol, Jaime, Feillet, Francois, Giżewska, Maria, Hui

Journal:

The Lancet Diabetes & Endocrinology

Year:

2017

Language:

english

File:

PDF, 58 KB

english, 2017