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Tularemia Transmission to Humans, the Netherlands, 2011-2021

Rijks, Jolianne M, Tulen, Anna D, Notermans, Daan W, Reubsaet, Frans A G, de Vries, Maaike C, Koene, Miriam G J, Swaan, Corien M, Maas, Miriam
2022

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Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherland...

Schwantje, Marit, Fuchs, Sabine A., de Boer, Lonneke, Bosch, Annet M., Cuppen, Inge, Dekkers, Eugenie, Derks, Terry G. J., Ferdinandusse, Sacha, Ijlst, Lodewijk, Houtkooper, Riekelt H., Maase, Rose, van der Pol, W. Ludo, de Vries, Maaike C., Verschoof-Puite, Rendelien K., Wanders, Ronald J. A., Williams, Monique, Wijburg, Frits, Visser, Gepke
Veröffentlicht in: Schwantje , M , Fuchs , S A , de Boer , L , Bosch , A M , Cuppen , I , Dekkers , E , Derks , T G J , Ferdinandusse , S , Ijlst , L , Houtkooper , R H , Maase , R , van der Pol , W L , de Vries , M C , Verschoof-Puite , R K , Wanders , R J A , Williams , M , Wijburg , F & Visser , G 2022 , ' Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 45 , no. 4 , pp. 804-818 . https://doi.org/10.1002/jimd.12502;
2022

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Genetic, biochemical and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after introduction of newborn screening in the Netherlands

Schwantje, Marit, Fuchs, Sabine A, de Boer, Lonneke, Bosch, Annet M, Cuppen, Inge, Dekkers, Eugenie, Derks, Terry G J, Ferdinandusse, Sacha, IJlst, Lodewijk, Houtkooper, Riekelt H, Maase, Rose, van der Pol, W Ludo, de Vries, Maaike C, Verschoof-Puite, Rendelien K, Wanders, Ronald J A, Williams, Monique, Wijburg, Frits, Visser, Gepke
Veröffentlicht in: Schwantje , M , Fuchs , S A , de Boer , L , Bosch , A M , Cuppen , I , Dekkers , E , Derks , T G J , Ferdinandusse , S , IJlst , L , Houtkooper , R H , Maase , R , van der Pol , W L , de Vries , M C , Verschoof-Puite , R K , Wanders , R J A , Williams , M , Wijburg , F & Visser , G 2022 , ' Genetic, biochemical and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after introduction of newborn screening in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 45 , no. 4 , pp. 804-818 . https://doi.org/10.1002/jimd.12502;
2022

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

Haijes, Hanneke A., Molema, Femke, Langeveld, Mirjam, Janssen, Mirian C., Bosch, Annet M., van Spronsen, Francjan, Mulder, Margot F., Verhoeven‐Duif, Nanda M., Jans, Judith J.M., van der Ploeg, Ans T., Wagenmakers, Margreet A., Rubio‐Gozalbo, M. Estela, Brouwers, Martijn C. G. J., de Vries, Maaike C., Langendonk, Janneke G., Williams, Monique, van Hasselt, Peter M.
Veröffentlicht in: Journal of Inherited Metabolic Disease ; volume 43, issue 3, page 424-437 ; ISSN 0141-8955 1573-2665;
2019

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

Haijes, Hanneke A., Molema, Femke, Langeveld, Mirjam, Janssen, Mirian C., Bosch, Annet M., van Spronsen, Francjan, Mulder, Margot F., Verhoeven-Duif, Nanda M., Jans, Judith J. M., van der Ploeg, Ans T., Wagenmakers, Margreet A., Rubio-Gozalbo, M. Estela, Brouwers, Martijn C. G. J., de Vries, Maaike C., Langendonk, Janneke G., Williams, Monique, van Hasselt, Peter M.
Veröffentlicht in: Haijes , H A , Molema , F , Langeveld , M , Janssen , M C , Bosch , A M , van Spronsen , F , Mulder , M F , Verhoeven-Duif , N M , Jans , J J M , van der Ploeg , A T , Wagenmakers , M A , Rubio-Gozalbo , M E , Brouwers , M C G J , de Vries , M C , Langendonk , J G , Williams , M & van Hasselt , P M 2020 , ' 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? ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 424-437 . https://doi.org/10.1002/jimd.12193;
2020

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Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature:Strategies for optimization

Stroek, Kevin, Boelen, Anita, Bouva, Marelle J, De Sain-van der Velden, Monique, Schielen, Peter C J I, Maase, Rose, Engel, Henk, Jakobs, Bernadette, Kluijtmans, Leo A J, Mulder, Margot F, Rubio-Gozalbo, M E, van Spronsen, Francjan J, Visser, Gepke, de Vries, Maaike C, Williams, Monique, Heijboer, Annemieke C, Kemper, Evelien A, Bosch, Annet M
Veröffentlicht in: Stroek , K , Boelen , A , Bouva , M J , De Sain-van der Velden , M , Schielen , P C J I , Maase , R , Engel , H , Jakobs , B , Kluijtmans , L A J , Mulder , M F , Rubio-Gozalbo , M E , van Spronsen , F J , Visser , G , de Vries , M C , Williams , M , Heijboer , A C , Kemper , E A & Bosch , A M 2020 , ' Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature : Strategies for optimization ' , JIMD reports , vol. 54 , no. 1 , pp. 68-78 . https://doi.org/10.1002/jmd2.12124;
2020

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Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

Stroek, Kevin, Boelen, Anita, Bouva, Marelle J., De Sain‐van der Velden, Monique, Schielen, Peter C. J. I., Maase, Rose, Engel, Henk, Jakobs, Bernadette, Kluijtmans, Leo A. J., Mulder, Margot F., Rubio‐Gozalbo, M. E., van Spronsen, Francjan J., Visser, Gepke, de Vries, Maaike C., Williams, Monique, Heijboer, Annemieke C., Kemper, Evelien A., Bosch, Annet M.
Veröffentlicht in: JIMD Reports ; volume 54, issue 1, page 68-78 ; ISSN 2192-8312 2192-8312;
2020