Works by Janssen, Mirian C. H.

Results: 46
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    The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians Group.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.70005
    By:
    • Tchan, Michel;
    • Lehman, Anna;
    • van Dussen, Laura;
    • Langendonk, Janneke G.;
    • Janssen, Mirian C. H.;
    • Langeveld, Mirjam;
    • Murphy, Elaine;
    • Ryder, Bryony;
    • Glamuzina, Emma;
    • Merkel, Martin;
    • Sechi, Annalisa;
    • Arnoux, Jean‐Baptiste;
    • Mochel, Fanny;
    • Alkemade, Gonnie;
    • Maillot, Francois;
    • Kaphan, Elsa;
    • Mazodier, Karin;
    • Thomas, Quentin;
    • Leguy‐Seguin, Vanessa;
    • Marelli, Cecilia
    Publication type:
    Article
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    Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 43, doi. 10.1002/jimd.12562
    By:
    • Veys, Koenraad;
    • Zadora, Ward;
    • Hohenfellner, Katharina;
    • Bockenhauer, Detlef;
    • Janssen, Mirian C. H.;
    • Niaudet, Patrick;
    • Servais, Aude;
    • Topaloglu, Rezan;
    • Besouw, Martine;
    • Novo, Robert;
    • Haffner, Dieter;
    • Kanzelmeyer, Nele;
    • Pape, Lars;
    • Wühl, Elke;
    • Harms, Erik;
    • Awan, Atif;
    • Sikora, Przemyslaw;
    • Ariceta, Gema;
    • van den Heuvel, Bert;
    • Levtchenko, Elena
    Publication type:
    Article
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    Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1094, doi. 10.1002/jimd.12548
    By:
    • Hermans, Merel E.;
    • van Weeghel, Michel;
    • Vaz, Frédéric M.;
    • Ferdinandusse, Sacha;
    • Hollak, Carla E. M.;
    • Huidekoper, Hidde H.;
    • Janssen, Mirian C. H.;
    • van Kuilenburg, André B. P.;
    • Pras‐Raves, Mia L.;
    • Wamelink, Mirjam M. C.;
    • Wanders, Ronald J. A.;
    • Welsink‐Karssies, Mendy M.;
    • Bosch, Annet M.
    Publication type:
    Article
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    Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 848, doi. 10.1002/jimd.12504
    By:
    • Yverneau, Mathilde;
    • Leroux, Stéphanie;
    • Imbard, Apolline;
    • Gleich, Florian;
    • Arion, Alina;
    • Moreau, Caroline;
    • Nassogne, Marie‐Cécile;
    • Szymanowski, Marie;
    • Tardieu, Marine;
    • Touati, Guy;
    • Bueno, María;
    • Chapman, Kimberly A.;
    • Chien, Yin‐Hsiu;
    • Huemer, Martina;
    • Ješina, Pavel;
    • Janssen, Mirian C. H.;
    • Kölker, Stefan;
    • Kožich, Viktor;
    • Lavigne, Christian;
    • Lund, Allan Meldgaard
    Publication type:
    Article
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    Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 777, doi. 10.1002/jimd.12323
    By:
    • Marelli, Cecilia;
    • Lavigne, Christian;
    • Stepien, Karolina M.;
    • Janssen, Mirian C. H.;
    • Feillet, Francois;
    • Kožich, Viktor;
    • Jesina, Pavel;
    • Schule, Rebecca;
    • Kessler, Christoph;
    • Redonnet‐Vernhet, Isabelle;
    • Regnier, Adeline;
    • Burda, Patricie;
    • Baumgartner, Matthias;
    • Benoist, Jean‐Francois;
    • Huemer, Martina;
    • Mochel, Fanny
    Publication type:
    Article
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    The 1‐<sup>13</sup>C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 507, doi. 10.1002/jimd.12207
    By:
    • Welsink‐Karssies, Mendy M.;
    • Harskamp, Dewi;
    • Ferdinandusse, Sacha;
    • Hollak, Carla E. M.;
    • Huidekoper, Hidde H.;
    • Janssen, Mirian C. H.;
    • Kemper, E. Marleen;
    • Langendonk, Janneke G.;
    • Rubio‐Gozalbo, M. Estela;
    • Vries, Maaike C.;
    • Wijburg, Frits A.;
    • Schierbeek, Henk;
    • Bosch, Annet M.
    Publication type:
    Article
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    Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 451, doi. 10.1002/jimd.12054
    By:
    • 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, Robin H. L.;
    • Brouwers, Martijn C. G. J.;
    • Janssen, Mirian C. H.;
    • Tijssen, Marina A.;
    • de Koning, Tom J.
    Publication type:
    Article
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    Quantification of gait in children with mitochondrial disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 731, doi. 10.1007/s10545-018-0148-5
    By:
    • Koene, Saskia;
    • Stolwijk, Niki M.;
    • Ramakers, Rob;
    • de Vries, Maaike;
    • de Boer, Lonneke;
    • Janssen, Mirian C. H.;
    • de Groot, Imelda;
    • Smeitink, Jan
    Publication type:
    Article
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    Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 337, doi. 10.1007/s10545-017-0131-6
    By:
    • Coene, Karlien L. M.;
    • Kluijtmans, Leo A. J.;
    • van der Heeft, Ed;
    • Engelke, Udo F. H.;
    • de Boer, Siebolt;
    • Hoegen, Brechtje;
    • Kwast, Hanneke J. T.;
    • van de Vorst, Maartje;
    • Huigen, Marleen C. D. G.;
    • Keularts, Irene M. L. W.;
    • Schreuder, Michiel F.;
    • van Karnebeek, Clara D. M.;
    • Wortmann, Saskia B.;
    • de Vries, Maaike C.;
    • Janssen, Mirian C. H.;
    • Gilissen, Christian;
    • Engel, Jasper;
    • Wevers, Ron A.
    Publication type:
    Article
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    Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG.

    Published in:
    Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8813121
    By:
    • Pajusalu, Sander;
    • Vals, Mari-Anne;
    • Serrano, Mercedes;
    • Witters, Peter;
    • Cechova, Anna;
    • Honzik, Tomáš;
    • Edmondson, Andrew C.;
    • Ficicioglu, Can;
    • Barone, Rita;
    • De Lonlay, Pascale;
    • Bérat, Claire-Marine;
    • Vuillaumier-Barrot, Sandrine;
    • Lam, Christina;
    • Patterson, Marc C.;
    • Janssen, Mirian C. H.;
    • Martins, Esmeralda;
    • Quelhas, Dulce;
    • Sykut-Cegielska, Jolanta;
    • Mousa, Jehan;
    • Urreizti, Roser
    Publication type:
    Article
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    Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.

    Published in:
    2021
    By:
    • Bouman, Karlijn;
    • Groothuis, Jan T.;
    • Doorduin, Jonne;
    • van Alfen, Nens;
    • Udink ten Cate, Floris E. A.;
    • van den Heuvel, Frederik M. A.;
    • Nijveldt, Robin;
    • van Tilburg, Willem C. M.;
    • Buckens, Stan C. F. M.;
    • Dittrich, Anne T. M.;
    • Draaisma, Jos M. T.;
    • Janssen, Mirian C. H.;
    • Kamsteeg, Erik-Jan;
    • van Kleef, Esmee S. B.;
    • Koene, Saskia;
    • Smeitink, Jan A. M.;
    • Küsters, Benno;
    • van Tienen, Florence H. J.;
    • Smeets, Hubert J. M.;
    • van Engelen, Baziel G. M.
    Publication type:
    journal article
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    Symptomatic lipid storage in carriers for the PNPLA2 gene.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 8, p. 807, doi. 10.1038/ejhg.2012.256
    By:
    • Janssen, Mirian C H;
    • van Engelen, Baziel;
    • Kapusta, Livia;
    • Lammens, Martin;
    • van Dijk, Martin;
    • Fischer, Judith;
    • van der Graaf, Marinette;
    • Wevers, Ron A;
    • Fahrleitner, Manuela;
    • Zimmermann, Robert;
    • Morava, Eva
    Publication type:
    Article
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    Symptomatic lipid storage in carriers for the PNPLA2 gene.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.11
    By:
    • Janssen, Mirian C H;
    • van Engelen, Baziel;
    • Kapusta, Livia;
    • Lammens, Martin;
    • van Dijk, Martin;
    • Fischer, Judith;
    • van der Graaf, Marinette;
    • Wevers, Ron A;
    • Fahrleitner, Manuela;
    • Zimmermann, Robert;
    • Morava, Eva
    Publication type:
    Article
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    Increased prevalence of Parkinson's disease in alkaptonuria.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 4, p. 282, doi. 10.1002/jmd2.12367
    By:
    • Ranganath, Lakshminarayan;
    • Khedr, Milad;
    • Milan, Anna M.;
    • Davison, Andrew S.;
    • Norman, Brendan P.;
    • Janssen, Mirian C. H.;
    • Lock, Edward;
    • Bou‐Gharios, George;
    • Gallagher, James A.
    Publication type:
    Article
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    Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 70, doi. 10.1002/jmd2.12186
    By:
    • Coene, Karlien L. M.;
    • Timmer, Corrie;
    • Goorden, Susan M. I.;
    • Hoedt, Amber E.;
    • Kluijtmans, Leo A. J.;
    • Janssen, Mirian C. H.;
    • Rennings, Alexander J. M.;
    • Prinsen, Hubertus C. M. T.;
    • Wamelink, Mirjam M. C.;
    • Ruijter, George J. G.;
    • Körver‐Keularts, Irene M. L. W.;
    • Heiner‐Fokkema, M. Rebecca;
    • Spronsen, Francjan J.;
    • Hollak, Carla E.;
    • Vaz, Frédéric M.;
    • Bosch, Annet M.;
    • Huigen, Marleen C. D. G.
    Publication type:
    Article
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    Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 3, p. 896, doi. 10.1093/brain/awae277
    By:
    • Smeitink, Jan;
    • Es, Just van;
    • Bosman, Brigitte;
    • Janssen, Mirian C H;
    • Klopstock, Thomas;
    • Gorman, Grainne;
    • Vissing, John;
    • Ruiterkamp, Gerrit;
    • Edgar, Chris J;
    • Abbink, Evertine J;
    • Maanen, Rob van;
    • Pogoryelova, Oksana;
    • Stendel, Claudia;
    • Bischoff, Almut;
    • Karin, Ivan;
    • Munshi, Mahtab;
    • Kümmel, Anne;
    • Burgert, Lydia;
    • Verhaak, Christianne;
    • Renkema, Herma
    Publication type:
    Article
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    Diurnal Rhythm rather than Dietary Iron Mediates Daily Hepcidin Variations.

    Published in:
    Clinical Chemistry, 2013, v. 59, n. 3, p. 527, doi. 10.1373/clinchem.2012.194977
    By:
    • Schaap, Charlotte C. M.;
    • Hendriks, Jan C. M.;
    • Kortman, Guus A. M.;
    • Klaver, Siem M.;
    • Kroot, Joyce J. C.;
    • Laarakkers, Coby M. M.;
    • Wiegerinck, Erwin T.;
    • Tjalsma, Harold;
    • Janssen, Mirian C. H.;
    • Swinkels, Dorine W.
    Publication type:
    Article
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    Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-103
    By:
    • Anjema, Karen;
    • Rijn, Margreet van;
    • Hofstede, Floris C.;
    • Bosch, Annet M.;
    • Hollak, Carla E. M.;
    • Rubio-Gozalbo, Estela;
    • De Vries, Maaike C.;
    • Janssen, Mirian C. H.;
    • Boelen, Carolien C. A.;
    • Burgerhof, Johannes G. M.;
    • Blau, Nenad;
    • Rebecca Heiner-Fokkema, M.;
    • Van Spronsen, Francjan J.
    Publication type:
    Article
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