Bosch, Annet M.: search on Z-Library

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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

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

4

Principles of Nutrigenetics and Nutrigenomics || Riboflavin

Bosch, Annet M.

Year:

2020

Language:

english

File:

PDF, 184 KB

english, 2020

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

"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

17

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

18

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

19

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

20

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

21

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

22

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation

Tuijnenburg, Paul, Cuadrado, Eloy, Bosch, Annet M., Kindermann, Angelika, Jansen, Machiel H., Alders, Marielle, van Leeuwen, Ester M. M., Kuijpers, Taco W.

Journal:

Frontiers in Pediatrics

Year:

2017

Language:

english

File:

PDF, 1.95 MB

english, 2017

23

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

24

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

25

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

26

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

27

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

28

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data

Stroek, Kevin, Bouva, Marelle J., Schielen, Peter C.J.I., Vaz, Frédéric M., Heijboer, Annemieke C., de Jonge, Robert, Boelen, Anita, Bosch, Annet M.

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 388 KB

english, 2018

29

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

30

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

31

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

32

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

33

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

34

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

O'Callaghan, Benjamin, Bosch, Annet M., Houlden, Henry

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.30 MB

english, 2019

35

Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: a retrospective and laboratory cohort study

Rijt, Willemijn J., Ferdinandusse, Sacha, Giannopoulos, Panagiotis, Ruiter, Jos P. N., Boer, Lonneke, Bosch, Annet M., Huidekoper, Hidde H., Rubio‐Gozalbo, M. Estela, Visser, Gepke, Williams, Monique,

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

File:

PDF, 3.04 MB

2019

36

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome

Welsink-Karssies, Mendy M., Schrantee, Anouk, Caan, Matthan W.A., Hollak, Carla E.M., Janssen, Mirian C.H., Oussoren, Esmee, de Vries, Maaike C., Roosendaal, Stefan D., Engelen, Marc, Bosch, Annet M.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 625 KB

2020

37

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

38

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

39

The need for additional care in patients with classical galactosaemia

Welling, Lindsey, Meester-Delver, Anke, Derks, Terry G., Janssen, Mirian C. H., Hollak, Carla E. M., de Vries, Maaike, Bosch, Annet M.

Journal:

Disability & Rehabilitation

Year:

2018

Language:

english

File:

PDF, 934 KB

english, 2018

40

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

41

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, de Vries, Maaike, Derks, Terry G.J., Mulder, Margot F., Williams, Monique, Gozalbo, Estela Rubio, Bosch, Annet M., van den Hurk, Dorine T.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.27 MB

english, 2019

42

A Nationwide Retrospective Observational Study Of Population Newborn Screening For Medium‐Chain Acyl‐CoA Dehydrogenase (MCAD) Deficiency In The Netherlands

Jager, Emmalie A., Kuijpers, Myrthe M., Bosch, Annet M., Mulder, Margot F., Rubio‐Gozalbo, M. Estela, Visser, Gepke, de Vries, Maaike, Williams, Monique, Waterham, Hans R., van Spronsen, Francjan J.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.51 MB

english, 2019

43

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

44

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, Robi

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 910 KB

english, 2019

45

Classic galactosemia: dietary dilemmas

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 85 KB

english, 2011

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

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

48

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

49

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

50

A9.13 systemic LDL cholesterol-accumulation during experimental oa leads to increased synovial thickening, s100a8/9 production and ectopic bone formation

de Munter, Wouter, van den Bosch, Martijn HJ, Sloetjes, Annet W, Vogl, Thomas, Roth, Johannes, van der Kraan, Peter M, van den Berg, Wim B, van Lent, Peter LEM

Journal:

Annals of the Rheumatic Diseases

Year:

2014

Language:

english

File:

PDF, 51 KB

english, 2014

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