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Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands

Houten, Sander M, van Woerden, Christiaan S, Wijburg, Frits A, Wanders, Ronald J A, Waterham, Hans R
Veröffentlicht in: European Journal of Human Genetics ; volume 11, issue 2, page 196-200 ; ISSN 1018-4813 1476-5438;
2003

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The difference between observed and expected prevalence of MCAD deficiency in The Netherlands: a genetic epidemiological study

Derks, Terry G J, Duran, Marinus, Waterham, Hans R, Reijngoud, Dirk-Jan, ten Kate, Leo P, Smit, G Peter A
Veröffentlicht in: European Journal of Human Genetics ; volume 13, issue 8, page 947-952 ; ISSN 1018-4813 1476-5438;
2005

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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., Gozalbo, Estela R., Visser, Gepke, de Vries, Maaike, Williams, Monique, Waterham, Hans R., van Spronsen, Francjan J., Schielen, Peter C.J.I., Derks, Terry G.J.
2019

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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., Gozalbo, Estela R., Visser, Gepke, de Vries, Maaike, Williams, Monique, Waterham, Hans R., van Spronsen, Francjan J., Schielen, Peter C. J. I., Derks, Terry G. J.
Veröffentlicht in: Journal of Inherited Metabolic Disease ; volume 42, issue 5, page 890-897 ; ISSN 0141-8955 1573-2665;
2019

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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, Schielen, Peter C J I, Derks, Terry G J
Veröffentlicht in: Jager , E A , Kuijpers , M M , Bosch , A M , Mulder , M F , Rubio-Gozalbo , M E , Visser , G , de Vries , M , Williams , M , Waterham , H R , van Spronsen , F J , Schielen , P C J I & Derks , T G J 2019 , ' A Nationwide Retrospective Observational Study Of Population Newborn Screening For Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency In The Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102;
2019

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

Touw, Catharina M. L., Smit, G. Peter A., de Vries, Maaike, de Klerk, Johannis B. C., Bosch, Annet M., Visser, Gepke, Mulder, Margot F., Rubio-Gozalbo, M. Estela, Elvers, Bert, Niezen-Koning, Klary E., Wanders, Ronald J. A., Waterham, Hans R., Reijngoud, Dirk-Jan, Derks, Terry G. J.
Veröffentlicht in: Touw , C M L , Smit , G P A , de Vries , M , de Klerk , J B C , Bosch , A M , Visser , G , Mulder , M F , Rubio-Gozalbo , M E , Elvers , B , Niezen-Koning , K E , Wanders , R J A , Waterham , H R , Reijngoud , D-J & Derks , T G J 2012 , ' Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency : data from a cohort study ' , Orphanet journal of rare diseases , vol. 7 , 30 . https://doi.org/10.1186/1750-1172-7-30;
2012

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Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor (Frontiers in Cell and Developmental Biology, (2020), 8, (499), 10.3389/fcell.2020...

Barendsen, Rinse W., Dijkstra, Inge M. E., Visser, Wouter F., Alders, Mariëlle, Bliek, Jet, Boelen, Anita, Bouva, Marelle J., van der Crabben, Saskia N., Elsinghorst, Ellen, van Gorp, Ankie G. M., Heijboer, Annemieke C., Jansen, Mandy, Jaspers, Yorrick R. J., van Lenthe, Henk, Metgod, Ingrid, Mooij, Christiaan F., van der Sluijs, Elise H. C., van Trotsenburg, A. S. Paul, Verschoof-Puite, Rendelien K., Vaz, Frédéric M., Waterham, Hans R., Wijburg, Frits A., Engelen, Marc, Dekkers, Eugènie, Kemp, Stephan
Veröffentlicht in: Barendsen , R W , Dijkstra , I M E , Visser , W F , Alders , M , Bliek , J , Boelen , A , Bouva , M J , van der Crabben , S N , Elsinghorst , E , van Gorp , A G M , Heijboer , A C , Jansen , M , Jaspers , Y R J , van Lenthe , H , Metgod , I , Mooij , C F , van der Sluijs , E H C , van Trotsenburg , A S P , Verschoof-Puite , R K , Vaz , F M , Waterham , H R , Wijburg , F A , Engelen , M , Dekkers , E & Kemp , S 2021 , ' Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor (Frontiers in Cell and Developmental Biology, (2020), 8, (499), 10.3389/fcell.2020.00499) ' , Frontiers in Cell and Developmental Biology , vol. 9 , 631655 . https://doi.org/10.3389/fcell.2021.631655;
2021

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Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Barendsen, Rinse W., Dijkstra, Inge M. E., Visser, Wouter F., Alders, Mariëlle, Bliek, Jet, Boelen, Anita, Bouva, Marelle J., van der Crabben, Saskia N., Elsinghorst, Ellen, van Gorp, Ankie G. M., Heijboer, Annemieke C., Jansen, Mandy, Jaspers, Yorrick R. J., van Lenthe, Henk, Metgod, Ingrid, Mooij, Christiaan F., van der Sluijs, Elise H. C., van Trotsenburg, A. S. Paul, Verschoof-Puite, Rendelien K., Vaz, Frédéric M., Waterham, Hans R., Wijburg, Frits A., Engelen, Marc, Dekkers, Eugènie, Kemp, Stephan
Veröffentlicht in: Frontiers in Cell and Developmental Biology ; volume 8 ; ISSN 2296-634X;
2020

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Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Barendsen, Rinse W., Dijkstra, Inge M. E., Visser, Wouter F., Alders, Mariëlle, Bliek, Jet, Boelen, Anita, Bouva, Marelle J., van der Crabben, Saskia N., Elsinghorst, Ellen, van Gorp, Ankie G. M., Heijboer, Annemieke C., Jansen, Mandy, Jaspers, Yorrick R. J., van Lenthe, Henk, Metgod, Ingrid, Mooij, Christiaan F., van der Sluijs, Elise H. C., van Trotsenburg, A. S. Paul, Verschoof-Puite, Rendelien K., Vaz, Frédéric M., Waterham, Hans R., Wijburg, Frits A., Engelen, Marc, Dekkers, Eugènie, Kemp, Stephan
Veröffentlicht in: Frontiers in Cell and Developmental Biology ; volume 9 ; ISSN 2296-634X;
2021

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Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study):The X-Factor

Barendsen, Rinse W., Dijkstra, Inge M.E., Visser, Wouter F., Alders, Mariëlle, Bliek, Jet, Boelen, Anita, Bouva, Marelle J., van der Crabben, Saskia N., Elsinghorst, Ellen, van Gorp, Ankie G.M., Heijboer, Annemieke C., Jansen, Mandy, Jaspers, Yorrick R.J., van Lenthe, Henk, Metgod, Ingrid, Mooij, Christiaan F., van der Sluijs, Elise H.C., van Trotsenburg, A. S.Paul, Verschoof-Puite, Rendelien K., Vaz, Frédéric M., Waterham, Hans R., Wijburg, Frits A., Engelen, Marc, Dekkers, Eugènie, Kemp, Stephan
Veröffentlicht in: Barendsen , R W , Dijkstra , I M E , Visser , W F , Alders , M , Bliek , J , Boelen , A , Bouva , M J , van der Crabben , S N , Elsinghorst , E , van Gorp , A G M , Heijboer , A C , Jansen , M , Jaspers , Y R J , van Lenthe , H , Metgod , I , Mooij , C F , van der Sluijs , E H C , van Trotsenburg , A S P , Verschoof-Puite , R K , Vaz , F M , Waterham , H R , Wijburg , F A , Engelen , M , Dekkers , E & Kemp , S 2020 , ' Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study) : The X-Factor ' , Frontiers in Cell and Developmental Biology , vol. 8 , 499 . https://doi.org/10.3389/fcell.2020.00499;
2020