Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect

Por Wortmann, Saskia B., Kluijtmans, Leo A. J., Sequeira, Silvia, Wevers, Ron A., Morava, Eva
Publicado no JIMD Rep (2014)

The 3-methylglutaconic acidurias: what’s new?

Por Wortmann, Saskia B., Kluijtmans, Leo A., Engelke, Udo F. H., Wevers, Ron A., Morava, Eva
Publicado em 2010

Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency

Por van de Logt, Anne-Els, Kluijtmans, Leo A. J., Huigen, Marleen C. D. G., Janssen, Mirian C. H.
Publicado no JIMD Rep (2016)

Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles

Por Heiner-Fokkema, M. Rebecca, Vaz, Frédéric M., Maatman, Ronald, Kluijtmans, Leo A. J., van Spronsen, Francjan J., Reijngoud, Dirk-Jan
Publicado no JIMD Rep (2016)

Molecular identification in metabolomics using infrared ion spectroscopy

Por Martens, Jonathan, Berden, Giel, van Outersterp, Rianne E., Kluijtmans, Leo A. J., Engelke, Udo F., van Karnebeek, Clara D. M., Wevers, Ron A., Oomens, Jos
Publicado no Sci Rep (2017)

New generation lipid emulsions prevent PNALD in chronic parenterally fed preterm pigs

Por Vlaardingerbroek, Hester, Ng, Kenneth, Stoll, Barbara, Benight, Nancy, Chacko, Shaji, Kluijtmans, Leo A. J., Kulik, Wim, Squires, E. James, Olutoye, Oluyinka, Schady, Deborah, Finegold, Milton L., van Goudoever, Johannes B., Burrin, Douglas G.
Publicado em 2014

Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

Por Ferrè, Silvia, de Baaij, Jeroen H.F., Ferreira, Patrick, Germann, Roger, de Klerk, Johannis B.C., Lavrijsen, Marla, van Zeeland, Femke, Venselaar, Hanka, Kluijtmans, Leo A.J., Hoenderop, Joost G.J., Bindels, René J.M.
Publicado em 2014

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency

Por Engelke, Udo F.H., Zijlstra, Fokje S.M., Mochel, Fanny, Valayannopoulos, Vassili, Rabier, Daniel, Kluijtmans, Leo A.J., Perl, András, Verhoeven-Duif, Nanda M., de Lonlay, Pascale, Wamelink, Mirjam M.C., Jakobs, Cornelis, Morava, Éva, Wevers, Ron A.
Publicado em 2010

Microbial Metabolism Shifts Towards an Adverse Profile with Supplementary Iron in the TIM-2 In vitro Model of the Human Colon

Por Kortman, Guus A. M., Dutilh, Bas E., Maathuis, Annet J. H., Engelke, Udo F., Boekhorst, Jos, Keegan, Kevin P., Nielsen, Fiona G. G., Betley, Jason, Weir, Jacqueline C., Kingsbury, Zoya, Kluijtmans, Leo A. J., Swinkels, Dorine W., Venema, Koen, Tjalsma, Harold
Publicado no Front Microbiol (2016)

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

Por Wortmann, Saskia B., Chen, Margaret A., Colombo, Roberto, Pontoglio, Alessandro, Alhaddad, Bader, Botto, Lorenzo D., Yuzyuk, Tatiana, Coughlin, Curtis R., Descartes, Maria, Grűnewald, Stephanie, Maranda, Bruno, Mills, Philippa B., Pitt, James, Potente, Catherine, Rodenburg, Richard, Kluijtmans, Leo A. J., Sampath, Srirangan, Pai, Emil F., Wevers, Ron A., Tiller, George E.
Publicado no J Inherit Metab Dis (2017)

Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion

Por Vyletal, Petr, Sokolová, Jitka, Cooper, David N., Kraus, Jan P., Krawczak, Michael, Pepe, Guglielmina, Rickards, Olga, Koch, Hans G., Linnebank, Michael, Kluijtmans, Leo A. J., Blom, Henk J., Boers, Godfried H. J., Gaustadnes, Mette, Skovby, Flemming, Wilcken, Bridget, Wilcken, David E. L., Andria, Generoso, Sebastio, Gianfranco, Naughten, Eileen R., Yap, Sufin, Ohura, Toshihiro, Pronicka, Ewa, Laszlo, Aranka, Kožich, Viktor
Publicado em 2007

The genotypic and phenotypic spectrum of MTO1 deficiency

Por O'Byrne, James J., Tarailo-Graovac, Maja, Ghani, Aisha, Champion, Michael, Deshpande, Charu, Dursun, Ali, Ozgul, Riza K., Freisinger, Peter, Garber, Ian, Haack, Tobias B., Horvath, Rita, Barić, Ivo, Husain, Ralf A., Kluijtmans, Leo A.J., Kotzaeridou, Urania, Morris, Andrew A., Ross, Colin J., Santra, Saikat, Smeitink, Jan, Tarnopolsky, Mark, Wortmann, Saskia B., Mayr, Johannes A., Brunner-Krainz, Michaela, Prokisch, Holger, Wasserman, Wyeth W., Wevers, Ron A., Engelke, Udo F., Rodenburg, Richard J., Ting, Teck Wah, McFarland, Robert, Taylor, Robert W., Salvarinova, Ramona, van Karnebeek, Clara D.M.
Publicado no Mol Genet Metab (2018)