Aminoacyl-tRNA synthetase deficiencies in search of common themes von Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.

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

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Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes von Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G. J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain‐van der Velden, Monique G. M., Rennings, Alexander J., Schielen, Peter J. C. I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras‐Raves, Mia L., Wanders, Ronald J. A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., Visser, Gepke

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A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands von Jager, Emmalie A., Kuijpers, Myrthe M., Bosch, Annet M., Mulder, Margot F., Gozalbo, Estela R., Visser, Gepke, Vries, Maaike, Williams, Monique, Waterham, Hans R., Spronsen, Francjan J., Schielen, Peter C. J. I., Derks, Terry G. J.

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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients von Williams, Monique, Valayannopoulos, Vassili, Altassan, Ruqaiah, Chung, Wendy K., Heijboer, Annemieke C., Keng, Wei Teik, Lapatto, Risto, McClean, Patricia, Mulder, Margot F., Tylki‐Szymańska, Anna, Walenkamp, Marie‐Jose E., Alfadhel, Majid, Alakeel, Hajar, Salomons, Gajja S., Eyaid, Wafaa, Wamelink, Mirjam M. C.

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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 von 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

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Proposal for an individualized dietary strategy in patients with very long‐chain acyl‐CoA dehydrogenase deficiency von 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., de Sain‐van der Velden, Monique G.M., Waterham, Hans R., Wijburg, Frits A., Visser, Gepke

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Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes von Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G.J., van Gassen, Koen L.I., Terheggen-Lagro, Suzanne W.J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E.M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H.J., Mulder, Margot F., van Hasselt, Peter M.

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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 von 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., Spronsen, Francjan J., Visser, Gepke, Vries, Maaike C., Williams, Monique, Heijboer, Annemieke C., Kemper, Evelien A., Bosch, Annet M.

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Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study von Demirdas, Serwet, Maurice-Stam, Heleen, Boelen, Carolien C.A., Hofstede, Floris C., Janssen, Mirian C.H., Langendonk, Janneke G., Mulder, Margot F., Rubio-Gozalbo, M. Estela, van Spronsen, Francjan J., de Vries, Maaike, Grootenhuis, Martha A., Bosch, Annet M.

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Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey von Brands, Marion M. G., Güngör, Deniz, van den Hout, Johanna M. P., Karstens, Francois P. J., Oussoren, Esmee, Plug, Iris, Boelens, Jaap Jan, van Hasselt, Peter M., Hollak, Carla E. M., Mulder, Margot F., Gozalbo, Estela Rubio, Smeitink, Jan A., Smit, G. Peter A., Wijburg, Frits A., Meutgeert, Hanka, van der Ploeg, Ans T.

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Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency von Bleeker, Jeannette C, Kok, Irene L, Ferdinandusse, Sacha, de Vries, Maaike, Derks, Terry G J, Mulder, Margot F, Williams, Monique, Rubio Gozalbo, Estela, Bosch, Annet M, van den Hurk, Dorine T, de Sain-van der Velden, Monique G M, Waterham, Hans R, Wijburg, Frits A, Visser, Gepke

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans von Vikkula, Mikka, Al-Gazali, Lihadh, Zwijnenburg, Petra J, Alders, Marielle, Hennekam, Raoul C, Salehi, Faranak, Gjini, Evisa, Verheij, Joke B G M, Hogan, Benjamin M, Offerhaus, G Johan A, Holmberg, Eva E, Schulte-Merker, Stefan, Hennekam, Eric A, Schroor, Eelco J, Mulder, Margot F, Prescott, Trine E, Witte, Merlijn, Mannens, Marcel M A M

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Nephrological abnormalities in patients with transaldolase deficiency von LOEFFEN, Yvette G. T, BIEBUYCK, Nathalie, WAMELINK, Mirjam M. C, JAKOBS, Cornelis, MULDER, Margot F, TYLKI-SZYMANSKA, Anna, FUNG, Cheuk-Wing, VALAYANNOPOULOS, Vassili, BÖKENKAMP, Arend

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A case of tubulointerstitial nephritis in a patient with an influenza H1N1 infection von Ashtiani, Niloufar, Mulder, Margot F., van Wijk, Joanna A. E., Bokenkamp, Arend

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Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency von Sie, Sintha D., de Jonge, Rogier C. J., Blom, Henk J., Mulder, Margot F., Reiss, Jochen, Vermeulen, R. J., Peeters-Scholte, Cacha M. P. C. D.

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Hydrops fetalis and early neonatal multiple organ failure in familial hemophagocytic lymphohistiocytosis von Vermeulen, Marijn J, de Haas, Valerie, Mulder, Margot F, Flohil, Claudie, Fetter, Willem P.F, van de Kamp, Jiddeke M

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A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands von 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

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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies von Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., de Souza, Carolina Fischinger Moura, Schwartz, Ida V. D., Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc-Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., Wevers, Ron A.

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Aminoacyl-tRNA synthetase deficiencies in search of commonthemes von Fuchs, Sabine A, Schene Imre F, Kok Gautam, Jansen, Jurriaan M, Nikkels Peter G J, van Gassen Koen L I, Terheggen-Lagro Suzanne W J, van der Crabben Saskia N, Hoeks, Sanne E, Niers Laetitia E M, Wolf, Nicole I, de Vries Maaike C, Koolen David A, Houwen Roderick H J, Mulder, Margot F, van Hasselt Peter M

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