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48 results on '"Haijes, Hanneke A."'

1. High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Author

Molema, F., Haijes, Hanneke A., Janssen, M.C., Bosch, A.M., Spronsen, F.J. van, Mulder, M.F., Verhoeven-Duif, N.M., Jans, J.J., Ploeg, A.T. van der, Wagenmakers, Margreet A. E. M., Rubio-Gozalbo, M.E., Brouwers, M., Vries, M.C. de, Fuchs, S., Langendonk, J.G., Rizopoulos, D., Hasselt, P.M. van, Williams, M., Molema, F., Haijes, Hanneke A., Janssen, M.C., Bosch, A.M., Spronsen, F.J. van, Mulder, M.F., Verhoeven-Duif, N.M., Jans, J.J., Ploeg, A.T. van der, Wagenmakers, Margreet A. E. M., Rubio-Gozalbo, M.E., Brouwers, M., Vries, M.C. de, Fuchs, S., Langendonk, J.G., Rizopoulos, D., Hasselt, P.M. van, and Williams, M.

Abstract

Contains fulltext : 234036.pdf (Publisher’s version ) (Open Access), BACKGROUND AND OBJECTIVE: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted diet is the mainstay for treatment. Additional amino acid mixtures (AAM) can be prescribed if natural protein is insufficient. It is unknown if dietary treatment can have an impact on outcome. DESIGN: We performed a nationwide retrospective cohort study and evaluated both longitudinal dietary treatment and clinical course of Dutch MMA and PA patients. Protein prescription was compared to the recommended daily allowances (RDA); the safe level of protein intake as provided by the World Health Organization. The association of longitudinal dietary treatment with long-term outcome was evaluated. RESULTS: The cohort included 76 patients with a median retrospective follow-up period of 15 years (min-max: 0-48 years) and a total of 1063 patient years on a protein restricted diet. Natural protein prescription exceeded the RDA in 37% (470/1287) of all prescriptions and due to AAM prescription, the total protein prescription exceeded RDA in 84% (1070/1277). Higher protein prescriptions were associated with adverse outcomes in severely affected patients. In PA early onset patients a higher natural protein prescription was associated with more frequent AMD. In MMA vitamin B12 unresponsive patients, both a higher total protein prescription and AAM protein prescription were associated with more mitochondrial complications. A higher AAM protein prescription was associated with an increased frequency of cognitive impairment in the entire. CONCLUSION: Protein intake in excess of recommendations is frequent and is associated with poor outcome.

Published
2021

2. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

Author

Veldman, B.C.F., Kuper, W.F.E., Lilien, M., Hoeijmakers, J.H.M., Marcelis, C.L.M., Phan, M., Hettinga, Y., Talsma, H.E., Hasselt, P.M. van, Haijes, Hanneke A., Veldman, B.C.F., Kuper, W.F.E., Lilien, M., Hoeijmakers, J.H.M., Marcelis, C.L.M., Phan, M., Hettinga, Y., Talsma, H.E., Hasselt, P.M. van, and Haijes, Hanneke A.

Abstract

Contains fulltext : 237970.pdf (Publisher’s version ) (Open Access), The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83 is located in almost all cell types and is involved in the primary cilium assembly. Previously reported CEP83 deficient patients all presented with nephronophthisis and kidney dysfunction. Despite retinal degeneration being a common feature in ciliopathies, only one patient also had retinitis. Here, we present two unrelated patients, who both presented with retinitis pigmentosa, without nephronophthisis or any form of kidney dysfunction. Both patients harbor bi-allelic variants in CEP83. This report expands the current clinical spectrum of CEP83 deficiency. For timely diagnosis of CEP83 deficiency, we advocate that CEP83 should be included in gene panels for inherited retinal diseases.

Published
2021

3. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

Author

Metabole ziekten onderzoek 1, Nefrologie, Child Health, Metabole ziekten patientenzorg, Infection & Immunity, Genetica Sectie Metabole Diagnostiek, Veldman, Bram C.F., Kuper, Willemijn F.E., Lilien, Marc, Schuurs-Hoeijmakers, Janneke H.M., Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E., van Hasselt, Peter M., Haijes, Hanneke A., Metabole ziekten onderzoek 1, Nefrologie, Child Health, Metabole ziekten patientenzorg, Infection & Immunity, Genetica Sectie Metabole Diagnostiek, Veldman, Bram C.F., Kuper, Willemijn F.E., Lilien, Marc, Schuurs-Hoeijmakers, Janneke H.M., Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E., van Hasselt, Peter M., and Haijes, Hanneke A.

Published
2021

5. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

Author

Veldman, Bram C. F., primary, Kuper, Willemijn F. E., additional, Lilien, Marc, additional, Schuurs‐Hoeijmakers, Janneke H. M., additional, Marcelis, Carlo, additional, Phan, Milan, additional, Hettinga, Ymkje, additional, Talsma, Herman E., additional, Hasselt, Peter M., additional, and Haijes, Hanneke A., additional

Published
2021
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6. Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Author

Haijes, Hanneke A., Molema, Femke, Langeveld, Mirjam, Janssen, M.C., Bosch, Annet M., Spronsen, Francjan van, Vries, M.C. de, Williams, Monique, Hasselt, Peter M. van, Haijes, Hanneke A., Molema, Femke, Langeveld, Mirjam, Janssen, M.C., Bosch, Annet M., Spronsen, Francjan van, Vries, M.C. de, Williams, Monique, and Hasselt, Peter M. van

Abstract

Contains fulltext : 219092.pdf (Publisher’s version ) (Open Access)

Published
2020

7. Untargeted metabolomics for metabolic diagnostic screening with automated data interpretation using a knowledge-based algorithm

Author

Haijes, Hanneke A., van der Ham, Maria, Prinsen, Hubertus C.M.T., Broeks, Melissa H., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Haijes, Hanneke A., van der Ham, Maria, Prinsen, Hubertus C.M.T., Broeks, Melissa H., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Published
2020

8. Untargeted metabolomics for metabolic diagnostic screening with automated data interpretation using a knowledge-based algorithm

Author

Genetica Sectie Metabole Diagnostiek, Genetica Lab. Metabole Diagnostiek, DBG Metabole en Endocriene Ziekten, Child Health, Cluster C, Metabole ziekten patientenzorg, Infection & Immunity, Cancer, Haijes, Hanneke A., van der Ham, Maria, Prinsen, Hubertus C.M.T., Broeks, Melissa H., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Genetica Sectie Metabole Diagnostiek, Genetica Lab. Metabole Diagnostiek, DBG Metabole en Endocriene Ziekten, Child Health, Cluster C, Metabole ziekten patientenzorg, Infection & Immunity, Cancer, Haijes, Hanneke A., van der Ham, Maria, Prinsen, Hubertus C.M.T., Broeks, Melissa H., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Published
2020

9. Cross-omics: Integrating genomics with metabolomics in clinical diagnostics

Author

Genetica Lab. Metabole Diagnostiek, Genetica Sectie Genoomdiagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Genetica Sectie Metabole Diagnostiek, Genetica Medische Informatica, Cluster C, Metabole ziekten patientenzorg, Infection & Immunity, Cancer, Kerkhofs, Marten H.P.M., Haijes, Hanneke A., Marcel Willemsen, A., Van Gassen, Koen L.I., Van Der Ham, Maria, Gerrits, Johan, De Sain-Van Der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Van Deutekom, Hanneke W.M., Van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Genetica Lab. Metabole Diagnostiek, Genetica Sectie Genoomdiagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Genetica Sectie Metabole Diagnostiek, Genetica Medische Informatica, Cluster C, Metabole ziekten patientenzorg, Infection & Immunity, Cancer, Kerkhofs, Marten H.P.M., Haijes, Hanneke A., Marcel Willemsen, A., Van Gassen, Koen L.I., Van Der Ham, Maria, Gerrits, Johan, De Sain-Van Der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Van Deutekom, Hanneke W.M., Van Hasselt, Peter M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Published
2020

11. Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics

Author

Kerkhofs, Marten H. P. M., primary, Haijes, Hanneke A., additional, Willemsen, A. Marcel, additional, van Gassen, Koen L. I., additional, van der Ham, Maria, additional, Gerrits, Johan, additional, de Sain-van der Velden, Monique G. M., additional, Prinsen, Hubertus C. M. T., additional, van Deutekom, Hanneke W. M., additional, van Hasselt, Peter M., additional, Verhoeven-Duif, Nanda M., additional, and Jans, Judith J. M., additional

Published
2020
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14. Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Author

Haijes, Hanneke A., primary, Molema, Femke, additional, Langeveld, Mirjam, additional, Janssen, Mirian C., additional, Bosch, Annet M., additional, Spronsen, Francjan, additional, Mulder, Margot F., additional, Verhoeven‐Duif, Nanda M., additional, Jans, Judith J.M., additional, Ploeg, Ans T., additional, Wagenmakers, Margreet A., additional, Rubio‐Gozalbo, M. Estela, additional, Brouwers, Martijn C. G. J., additional, Vries, Maaike C., additional, Langendonk, Janneke G., additional, Williams, Monique, additional, and Hasselt, Peter M., additional

Published
2019
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15. Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Author

Haijes, Hanneke A., de Sain-van der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D.M., Selby, Kathryn A., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Haijes, Hanneke A., de Sain-van der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D.M., Selby, Kathryn A., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Published
2019

16. Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid

Author

Haijes, Hanneke A, van der Ham, Maria, Gerrits, Johan, van Hasselt, Peter M, Prinsen, Hubertus C M T, de Sain-van der Velden, Monique G M, Verhoeven-Duif, Nanda M, Jans, Judith J M, Haijes, Hanneke A, van der Ham, Maria, Gerrits, Johan, van Hasselt, Peter M, Prinsen, Hubertus C M T, de Sain-van der Velden, Monique G M, Verhoeven-Duif, Nanda M, and Jans, Judith J M

Published
2019

17. Direct infusion based metabolomics identifies metabolic disease in patients’ dried blood spots and plasma

Author

Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Published
2019

20. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Author

Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, H., Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, A., Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, E., Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, M., Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, S., Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, R., Falk, Marni J., McCormick, Elizabeth M., Timmers, H. T.Marc, van Hasselt, Peter M., Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, H., Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, A., Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, E., Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, M., Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, S., Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, R., Falk, Marni J., McCormick, Elizabeth M., Timmers, H. T.Marc, and van Hasselt, Peter M.

Published
2019

21. Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies

Author

Genetica Sectie Metabole Diagnostiek, UMC Utrecht, Cluster C, Metabole ziekten patientenzorg, Child Health, Cancer, Haijes, Hanneke A., van Hasselt, Peter M., Jans, Judith J.M., Verhoeven-Duif, Nanda M., Genetica Sectie Metabole Diagnostiek, UMC Utrecht, Cluster C, Metabole ziekten patientenzorg, Child Health, Cancer, Haijes, Hanneke A., van Hasselt, Peter M., Jans, Judith J.M., and Verhoeven-Duif, Nanda M.

Published
2019

22. Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

Author

Genetica Sectie Metabole Diagnostiek, UMC Utrecht, Child Health, MS Neonatologie, Cancer, Cluster C, Metabole ziekten patientenzorg, Haijes, Hanneke A., Jans, Judith J.M., Tas, Simone Y., Verhoeven-Duif, Nanda M., van Hasselt, Peter M., Genetica Sectie Metabole Diagnostiek, UMC Utrecht, Child Health, MS Neonatologie, Cancer, Cluster C, Metabole ziekten patientenzorg, Haijes, Hanneke A., Jans, Judith J.M., Tas, Simone Y., Verhoeven-Duif, Nanda M., and van Hasselt, Peter M.

Published
2019

23. Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Author

Genetica Sectie Metabole Diagnostiek, UMC Utrecht, Child Health, Genetica Lab. Metabole Diagnostiek, DBG Metabole en Endocriene Ziekten, Cluster C, Metabole ziekten patientenzorg, Cancer, Haijes, Hanneke A., de Sain-van der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D.M., Selby, Kathryn A., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Genetica Sectie Metabole Diagnostiek, UMC Utrecht, Child Health, Genetica Lab. Metabole Diagnostiek, DBG Metabole en Endocriene Ziekten, Cluster C, Metabole ziekten patientenzorg, Cancer, Haijes, Hanneke A., de Sain-van der Velden, Monique G.M., Prinsen, Hubertus C.M.T., Willems, Anke P., van der Ham, Maria, Gerrits, Johan, Couse, Madeline H., Friedman, Jan M., van Karnebeek, Clara D.M., Selby, Kathryn A., van Hasselt, Peter M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Published
2019

24. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Author

Genetica Sectie Metabole Diagnostiek, UMC Utrecht, Metabole ziekten patientenzorg, CMM Sectie Molecular Cancer Research, CMM Groep Bos, Cancer, CMM Groep Burgering, Genetica Sectie Genoomdiagnostiek, Child Health, Urologie Opleiding, CMM Sectie Stem Cells, Cluster C, Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, H., Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, A., Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, E., Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, M., Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, S., Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, R., Falk, Marni J., McCormick, Elizabeth M., Timmers, H. T.Marc, van Hasselt, Peter M., Genetica Sectie Metabole Diagnostiek, UMC Utrecht, Metabole ziekten patientenzorg, CMM Sectie Molecular Cancer Research, CMM Groep Bos, Cancer, CMM Groep Burgering, Genetica Sectie Genoomdiagnostiek, Child Health, Urologie Opleiding, CMM Sectie Stem Cells, Cluster C, Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, H., Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, A., Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, E., Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, M., Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, S., Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, R., Falk, Marni J., McCormick, Elizabeth M., Timmers, H. T.Marc, and van Hasselt, Peter M.

Published
2019

25. Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid

Author

Genetica Sectie Metabole Diagnostiek, DBG Metabole en Endocriene Ziekten, Cluster C, Metabole ziekten patientenzorg, Child Health, Cancer, Haijes, Hanneke A, van der Ham, Maria, Gerrits, Johan, van Hasselt, Peter M, Prinsen, Hubertus C M T, de Sain-van der Velden, Monique G M, Verhoeven-Duif, Nanda M, Jans, Judith J M, Genetica Sectie Metabole Diagnostiek, DBG Metabole en Endocriene Ziekten, Cluster C, Metabole ziekten patientenzorg, Child Health, Cancer, Haijes, Hanneke A, van der Ham, Maria, Gerrits, Johan, van Hasselt, Peter M, Prinsen, Hubertus C M T, de Sain-van der Velden, Monique G M, Verhoeven-Duif, Nanda M, and Jans, Judith J M

Published
2019

26. Direct infusion based metabolomics identifies metabolic disease in patients’ dried blood spots and plasma

Author

Genetica Lab. Metabole Diagnostiek, Genetica Sectie Metabole Diagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Metabole ziekten patientenzorg, Cluster C, Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Genetica Lab. Metabole Diagnostiek, Genetica Sectie Metabole Diagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Metabole ziekten patientenzorg, Cluster C, Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Published
2019

27. Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics

Author

Genetica Sectie Metabole Diagnostiek, Child Health, Cancer, Haijes, Hanneke A, Willemse, Eline A J, Gerrits, Johan, van der Flier, Wiesje M, Teunissen, Charlotte E, Verhoeven-Duif, Nanda M, Jans, Judith J M, Genetica Sectie Metabole Diagnostiek, Child Health, Cancer, Haijes, Hanneke A, Willemse, Eline A J, Gerrits, Johan, van der Flier, Wiesje M, Teunissen, Charlotte E, Verhoeven-Duif, Nanda M, and Jans, Judith J M

Published
2019

29. Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Author

Haijes, Hanneke A., primary, de Sain-van der Velden, Monique G.M., additional, Prinsen, Hubertus C.M.T., additional, Willems, Anke P., additional, van der Ham, Maria, additional, Gerrits, Johan, additional, Couse, Madeline H., additional, Friedman, Jan M., additional, van Karnebeek, Clara D.M., additional, Selby, Kathryn A., additional, van Hasselt, Peter M., additional, Verhoeven-Duif, Nanda M., additional, and Jans, Judith J.M., additional

Published
2019
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30. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Author

Haijes, Hanneke A., primary, Koster, Maria J.E., additional, Rehmann, Holger, additional, Li, Dong, additional, Hakonarson, Hakon, additional, Cappuccio, Gerarda, additional, Hancarova, Miroslava, additional, Lehalle, Daphne, additional, Reardon, Willie, additional, Schaefer, G. Bradley, additional, Lehman, Anna, additional, van de Laar, Ingrid M.B.H., additional, Tesselaar, Coranne D., additional, Turner, Clesson, additional, Goldenberg, Alice, additional, Patrier, Sophie, additional, Thevenon, Julien, additional, Pinelli, Michele, additional, Brunetti-Pierri, Nicola, additional, Prchalová, Darina, additional, Havlovicová, Markéta, additional, Vlckova, Markéta, additional, Sedláček, Zdeněk, additional, Lopez, Elena, additional, Ragoussis, Vassilis, additional, Pagnamenta, Alistair T., additional, Kini, Usha, additional, Vos, Harmjan R., additional, van Es, Robert M., additional, van Schaik, Richard F.M.A., additional, van Essen, Ton A.J., additional, Kibaek, Maria, additional, Taylor, Jenny C., additional, Sullivan, Jennifer, additional, Shashi, Vandana, additional, Petrovski, Slave, additional, Fagerberg, Christina, additional, Martin, Donna M., additional, van Gassen, Koen L.I., additional, Pfundt, Rolph, additional, Falk, Marni J., additional, McCormick, Elizabeth M., additional, Timmers, H.T. Marc, additional, and van Hasselt, Peter M., additional

Published
2019
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35. Hypothesis: Lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG

Author

Genetica Sectie Metabole Diagnostiek, Metabole ziekten patientenzorg, Child Health, Cluster C, Haijes, Hanneke A, Jaeken, Jaak, Foulquier, François, van Hasselt, Peter M, Genetica Sectie Metabole Diagnostiek, Metabole ziekten patientenzorg, Child Health, Cluster C, Haijes, Hanneke A, Jaeken, Jaak, Foulquier, François, and van Hasselt, Peter M

Published
2018

38. Participatory methods in pediatric participatory research: a systematic review

Author

Genetica Sectie Metabole Diagnostiek, Medical Humanities Onderzoek Team 1, Circulatory Health, JC onderzoeksprogramma Methodologie, Haijes, Hanneke A, van Thiel, Ghislaine J M W, Genetica Sectie Metabole Diagnostiek, Medical Humanities Onderzoek Team 1, Circulatory Health, JC onderzoeksprogramma Methodologie, Haijes, Hanneke A, and van Thiel, Ghislaine J M W

Published
2016

40. Key features and clinical variability of COG6-CDG

Author

Rymen, Daisy, Winter, Julia, Van Hasselt, Peter M, Jaeken, Jaak, Kasapkara, Cigdem, Gokçay, Gulden, Haijes, Hanneke, Goyens, Philippe, Tokatli, Aysegul, Thiel, Christian, Bartsch, Oliver, Hecht, Jochen, Krawitz, Peter, Prinsen, Hubertus C M T, Mildenberger, Eva, Matthijs, Gert, Kornak, Uwe, Rymen, Daisy, Winter, Julia, Van Hasselt, Peter M, Jaeken, Jaak, Kasapkara, Cigdem, Gokçay, Gulden, Haijes, Hanneke, Goyens, Philippe, Tokatli, Aysegul, Thiel, Christian, Bartsch, Oliver, Hecht, Jochen, Krawitz, Peter, Prinsen, Hubertus C M T, Mildenberger, Eva, Matthijs, Gert, and Kornak, Uwe

Published
2015

41. Key features and clinical variability of COG6-CDG

Author

Metabole ziekten patientenzorg, Child Health, Genetica Sectie Metabole Diagnostiek, Rymen, Daisy, Winter, Julia, Van Hasselt, Peter M, Jaeken, Jaak, Kasapkara, Cigdem, Gokçay, Gulden, Haijes, Hanneke, Goyens, Philippe, Tokatli, Aysegul, Thiel, Christian, Bartsch, Oliver, Hecht, Jochen, Krawitz, Peter, Prinsen, Hubertus C M T, Mildenberger, Eva, Matthijs, Gert, Kornak, Uwe, Metabole ziekten patientenzorg, Child Health, Genetica Sectie Metabole Diagnostiek, Rymen, Daisy, Winter, Julia, Van Hasselt, Peter M, Jaeken, Jaak, Kasapkara, Cigdem, Gokçay, Gulden, Haijes, Hanneke, Goyens, Philippe, Tokatli, Aysegul, Thiel, Christian, Bartsch, Oliver, Hecht, Jochen, Krawitz, Peter, Prinsen, Hubertus C M T, Mildenberger, Eva, Matthijs, Gert, and Kornak, Uwe

Published
2015

43. Hypothesis: lobe A (COG1–4)-CDG causes a more severe phenotype than lobe B (COG5–8)-CDG.

Author

Haijes, Hanneke A., Jaeken, Jaak, Foulquier, François, and van Hasselt, Peter M.

Abstract

The conserved oligomeric Golgi (COG) complex consists of eight subunits organized in two lobes: lobe A (COG1–4) and lobe B (COG5–8). The different functional roles of COG lobe A and lobe B might result in distinct clinical phenotypes in patients with COG-CDG (congenital disorders of glycosylation). This hypothesis is supported by three observations. First, knock-down of COG lobe A components affects Golgi morphology more severely than knock-down of COG lobe B components. Second, nearly all of the 27 patients with lobe B COG-CDG had bi-allelic truncating mutations, as compared with only one of the six patients with lobe A COG-CDG. This represents a frequency gap which suggests that bi-allelic truncating mutations in COG lobe A genes might be non-viable. Third, in support, large-scale exome data of healthy adults (Exome Aggregation Consortium (ExAC)) underline that COG lobe A genes are less tolerant to genetic variation than COG lobe B genes. Thus, comparable molecular defects are more detrimental in lobe A COG-CDG than in lobe B COG-CDG. In a larger perspective, clinical phenotypic severity corresponded nicely with tolerance to genetic variation. Therefore, genomic epidemiology can potentially be used as a photographic negative for mutational severity. [ABSTRACT FROM AUTHOR]

Published
2018
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44. Key features and clinical variability of COG6-CDG

Author

Rymen, Daisy, primary, Winter, Julia, additional, Van Hasselt, Peter M., additional, Jaeken, Jaak, additional, Kasapkara, Cigdem, additional, Gokçay, Gulden, additional, Haijes, Hanneke, additional, Goyens, Philippe, additional, Tokatli, Aysegul, additional, Thiel, Christian, additional, Bartsch, Oliver, additional, Hecht, Jochen, additional, Krawitz, Peter, additional, Prinsen, Hubertus C.M.T., additional, Mildenberger, Eva, additional, Matthijs, Gert, additional, and Kornak, Uwe, additional

Published
2015
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45. Participatory methods in pediatric participatory research: a systematic review

Author

Haijes, Hanneke A. and van Thiel, Ghislaine J. M. W.

Abstract

Meaningful child participation in medical research is seen as important. In order to facilitate further development of participatory research, we performed a systematic literature study to describe and assess the available knowledge on participatory methods in pediatric research. A search was executed in five databases: PubMed, CINAHL, PsycINFO, Scopus, and Cochrane. After careful screening of relevant papers, finally 24 documents were included in our analysis. Literature on participatory methods in pediatric research appears generally to be descriptive, whereby high-quality evidence is lacking. Overall, five groups of participatory methods for children could be distinguished: observational, verbal, written, visual, and active methods. The choice for one of these methods should be based on the child’s age, on social and demographic characteristics, and on the research objectives. To date, these methods are still solely used for obtaining data, yet they are suitable for conducting meaningful participation. This may result in a successful partnership between children and researchers. Researchers conducting participatory research with children can use this systematic review in order to weigh the current knowledge about the participatory methods presented.

Published
2016
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46. Assessing the Pre-Analytical Stability of Small-Molecule Metabolites in Cerebrospinal Fluid Using Direct-Infusion Metabolomics.

Author

Haijes, Hanneke A., Willemse, Eline A.J., Gerrits, Johan, van der Flier, Wiesje M., Teunissen, Charlotte E., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Subjects
CEREBROSPINAL fluid, METABOLITES, CEREBROSPINAL fluid examination, METABOLOMICS, MULTIPLE correspondence analysis (Statistics), KRUSKAL-Wallis Test, MASS spectrometry
Abstract

Metabolomics studies aiming to find biomarkers frequently make use of historical or multicenter cohorts. These samples often have different pre-analytical conditions that potentially affect metabolite concentrations. We studied the effect of different storage conditions on the stability of small-molecule metabolites in cerebrospinal fluid to aid a reliable interpretation of metabolomics data. Three cerebrospinal fluid pools were prepared from surplus samples from the Amsterdam Dementia Cohort biobank. Aliquoted pools were exposed to different storage conditions to assess the temperature and freeze/thaw stability before final storage at −80 °C: storage up to four months at −20 °C and up to one week at either 5–8 °C or 18–22 °C and exposure to up to seven freeze/thaw cycles. Direct-infusion high-resolution mass spectrometry was performed, resulting in the identification of 1852 m/z peaks. To test the storage stability, principal component analyses, repeated measures analysis of variance, Kruskal–Wallis tests, and fold change analyses were performed, all demonstrating that small-molecule metabolites in the cerebrospinal fluid (CSF) are relatively unaffected by 1–3 freeze/thaw cycles, by storage at −20 °C up to two months, by storage at 5–8 °C for up to 72 h, or by storage at 18–22 °C for up to 8 h. This suggests that these differences do not affect the interpretation of potential small-molecule biomarkers in multicenter or historical cohorts and implies that these cohorts are suitable for biomarker studies. [ABSTRACT FROM AUTHOR]

Published
2019
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47. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Author

Coranne D. Tesselaar, Usha Kini, Vandana Shashi, Willie Reardon, H. T. Marc Timmers, Donna M. Martin, Jenny C. Taylor, Dong Li, Elizabeth M. McCormick, Alice Goldenberg, Marketa Havlovicova, Peter M. van Hasselt, Harmjan R. Vos, Maria J.E. Koster, Daphné Lehalle, Sophie Patrier, Elena Lopez, Rolph Pfundt, Richard F.M.A. van Schaik, Koen L.I. van Gassen, Gerarda Cappuccio, Julien Thevenon, Clesson Turner, Ingrid M.B.H. van de Laar, Marni J. Falk, Marketa Vlckova, Vassilis Ragoussis, Robert M. van Es, Nicola Brunetti-Pierri, Michele Pinelli, Alistair T. Pagnamenta, Christina Fagerberg, Darina Prchalova, Slavé Petrovski, Anna Lehman, Hakon Hakonarson, Ton van Essen, Maria Kibaek, Hanneke A. Haijes, G. Bradley Schaefer, Miroslava Hancarova, Jennifer A. Sullivan, Sedlácek Z, Holger Rehmann, Clinical Genetics, Haijes, Hanneke A, Koster, Maria J E, Rehmann, Holger, Li, Dong, Hakonarson, Hakon, Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G Bradley, Lehman, Anna, van de Laar, Ingrid M B H, Tesselaar, Coranne D, Turner, Clesson, Goldenberg, Alice, Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, Elena, Ragoussis, Vassili, Pagnamenta, Alistair T, Kini, Usha, Vos, Harmjan R, van Es, Robert M, van Schaik, Richard F M A, van Essen, Ton A J, Kibaek, Maria, Taylor, Jenny C, Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Fagerberg, Christina, Martin, Donna M, van Gassen, Koen L I, Pfundt, Rolph, Falk, Marni J, Mccormick, Elizabeth M, Timmers, H T Marc, and van Hasselt, Peter M

Subjects
Male, Muscle Hypotonia, POLR2A, PROTEIN, RNA polymerase II, ELONGATION COMPLEX, INITIATION, 0302 clinical medicine, infantile-onset hypotonia, Transcription (biology), PROGRAM, Missense mutation, Genetics(clinical), TRANSCRIPTION, Age of Onset, Child, MUTATION, de novo variants, Genetics (clinical), RNA polymerase II complex, Genetics, 0303 health sciences, haplo-insufficiency, DNA-Directed RNA Polymerases, dominant-negative effect, Hypotonia, Phenotype, Child, Preschool, Female, medicine.symptom, LARGEST SUBUNIT, STRUCTURAL BASIS, Heterozygote, Adolescent, RNA-POLYMERASE-II, Saccharomyces cerevisiae, Biology, Article, RPB1, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, desert Z score, medicine, Humans, CELL-CYCLE, Allele, Gene, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], neurodevelopmental syndrome, Neurodevelopmental Disorders, biology.protein, desert regions, de novo variant, desert region, 030217 neurology & neurosurgery, HeLa Cells
Abstract

The RNA polymerase II complex (pol II) is responsible for transcription of all similar to 21,000 human protein-encoding genes. Here, we describe sixteen individuals harboring de novo heterozygous variants in POLR2A, encoding RPB1, the largest subunit of pol II. An iterative approach combining structural evaluation and mass spectrometry analyses, the use of S. cerevisiae as a model system, and the assessment of cell viability in HeLa cells allowed us to classify eleven variants as probably disease-causing and four variants as possibly disease-causing. The significance of one variant remains unresolved. By quantification of phenotypic severity, we could distinguish mild and severe phenotypic consequences of the disease-causing variants. Missense variants expected to exert only mild structural effects led to a malfunctioning pol II enzyme, thereby inducing a dominant-negative effect on gene transcription. Intriguingly, individuals carrying these variants presented with a severe phenotype dominated by profound infantile-onset hypotonia and developmental delay. Conversely, individuals carrying variants expected to result in complete loss of function, thus reduced levels of functional pol II from the normal allele, exhibited the mildest phenotypes. We conclude that subtle variants that are central in functionally important domains of POLR2A cause a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia and developmental delay through a dominant-negative effect on pol-II-mediated transcription of DNA.

Published
2019

48. Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Author

Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Langendonk JG, Williams M, and van Hasselt PM

Subjects
Amino Acid Metabolism, Inborn Errors physiopathology, Amino Acid Metabolism, Inborn Errors therapy, Cognition, Female, Humans, Infant, Newborn, Kaplan-Meier Estimate, Male, Methylmalonic Acid, Mitochondrial Diseases physiopathology, Neonatal Screening, Netherlands, Propionic Acidemia physiopathology, Propionic Acidemia therapy, Retrospective Studies, Siblings, Amino Acid Metabolism, Inborn Errors diagnosis, Mitochondrial Diseases complications, Propionic Acidemia diagnosis
Abstract

Evidence for effectiveness of newborn screening (NBS) for propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) is scarce. Prior to implementation in the Netherlands, we aim to estimate the expected health gain of NBS for PA and MMA. In this national retrospective cohort study, the clinical course of 76/83 Dutch PA and MMA patients, diagnosed between January 1979 and July 2019, was evaluated. Five clinical outcome parameters were defined: adverse outcome of the first symptomatic phase, frequency of acute metabolic decompensations (AMD), cognitive function, mitochondrial complications, and treatment-related complications. Outcomes of patients identified by family testing were compared with the outcomes of their index siblings. An adverse outcome due to the first symptomatic phase was recorded in 46% of the clinically diagnosed patients. Outcome of the first symptomatic phase was similar in 5/9 sibling pairs and better in 4/9 pairs. Based on the day of diagnosis of the clinically diagnosed patients and sibling pair analysis, a preliminary estimated reduction of adverse outcome due to the first symptomatic phase from 46% to 36%-38% was calculated. Among the sibling pairs, AMD frequency, cognitive function, mitochondrial, and treatment-related complications were comparable. These results suggest that the health gain of NBS for PA and MMA in overall outcome may be limited, as only a modest decrease of adverse outcomes due to the first symptomatic phase is expected. With current clinical practice, no reduced AMD frequency, improved cognitive function, or reduced frequency of mitochondrial or treatment-related complications can be expected., (© 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)

Published
2020
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