FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study von Suomalainen, Anu, Prof, Elo, Jenni M, MB, Pietiläinen, Kirsi H, MD, Hakonen, Anna H, MD, Sevastianova, Ksenia, MD, Korpela, Mari, MD, Isohanni, Pirjo, MD, Marjavaara, Sanna K, PhD, Tyni, Tiina, MD, Kiuru-Enari, Sari, MD, Pihko, Helena, Prof, Darin, Niklas, MD, Õunap, Katrin, MD, Kluijtmans, Leo AJ, MD, Paetau, Anders, MD, Buzkova, Jana, MSc, Bindoff, Laurence A, Prof, Annunen-Rasila, Johanna, MD, Uusimaa, Johanna, MD, Rissanen, Aila, Prof, Yki-Järvinen, Hannele, Prof, Hirano, Michio, MD, Tulinius, Mar, Prof, Smeitink, Jan, Prof, Tyynismaa, Henna, PhD

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Metabolite Identification Using Infrared Ion SpectroscopyNovel Biomarkers for Pyridoxine-Dependent Epilepsy von van Outersterp, Rianne E, Engelke, Udo F.H, Merx, Jona, Berden, Giel, Paul, Mathias, Thomulka, Thomas, Berkessel, Albrecht, Huigen, Marleen C.D.G, Kluijtmans, Leo A.J, Mecinović, Jasmin, Rutjes, Floris P.J.T, van Karnebeek, Clara D.M, Wevers, Ron A, Boltje, Thomas J, Coene, Karlien L.M, Martens, Jonathan, Oomens, Jos

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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy von Engelke, Udo F.H, van Outersterp, Rianne E, Merx, Jona, van Geenen, Fred A.M.G, van Rooij, Arno, Berden, Giel, Huigen, Marleen C.D.G, Kluijtmans, Leo A.J, Peters, Tessa M.A, Shekaili, Hilal H. Al, Leavitt, Blair R, de Vrieze, Erik, Broekman, Sanne, van Wijk, Erwin, Tseng, Laura A, Kulkarni, Purva, Rutjes, Floris P.J.T, Mecinovic, Jasmin, Struys, Eduard A, Jansen, Laura A, Gospe, Sidney M., Jr, Mercimek-Andrews, Saadet, Hyland, Keith, Willemsen, Michel A.A.P, Bok, Levinus A, van Karnebeek, Clara D.M, Wevers, Ron A, Boltje, Thomas J, Oomens, Jos, Martens, Jonathan, Coene, Karlien L.M

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3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients von Wortmann, Saskia B., Kluijtmans, Leo A. J., Rodenburg, Richard J., Sass, Jörn Oliver, Nouws, Jessica, van Kaauwen, Edwin P., Kleefstra, Tjitske, Tranebjaerg, Lisbeth, de Vries, Maaike C., Isohanni, Pirjo, Walter, Katharina, Alkuraya, Fowzan S., Smuts, Izelle, Reinecke, Carolus J., van der Westhuizen, Francois H., Thorburn, David, Smeitink, Jan A. M., Morava, Eva, Wevers, Ron A.

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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness von Carrozzo, Rosalba, Dionisi-Vici, Carlo, Steuerwald, Ulrike, Lucioli, Simona, Deodato, Federica, Di Giandomenico, Sivia, Bertini, Enrico, Franke, Barbara, Kluijtmans, Leo A. J., Meschini, Maria Chiara, Rizzo, Cristiano, Piemonte, Fiorella, Rodenburg, Richard, Santer, René, Santorelli, Filippo M., van Rooij, Arno, Vermunt-de Koning, Diana, Morava, Eva, Wevers, Ron A.

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Urinary excretion of polyols and sugars in children with chronic kidney disease von Vanlede, Koen, Kluijtmans, Leo A. J., Monnens, Leo, Levtchenko, Elena

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Hydrogen cyanide emission in the lung by Staphylococcus aureus von Neerincx, Anne H, Linders, Ylona A M, Vermeulen, Laura, Belderbos, Robert A, Mandon, Julien, van Mastrigt, Esther, Pijnenburg, Marielle W, van Ingen, Jakko, Mouton, Johan W, Kluijtmans, Leo A J, Wevers, Ron A, Harren, Frans J M, Cristescu, Simona M, Merkus, Peter J F M

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Cerebrotendinous Xanthomatosis Without Neurological Involvement (P1.150) von Stelten, Bianca ML, Verrips, Aad, Raal, Frederick J, Rinne, Tuula, Kluijtmans, Leo AJ, Wevers, Ron A

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Autism Spectrum Disorder in Cerebrotendinous Xanthomatosis. (P4.160) von Stelten, Bianca ML, Verrips, Aad, Bonnot, Olivier, Huidekoper, Hidde H, Kluijtmans, Leo AJ, Wevers, Ron A

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Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia von Sass, Jörn Oliver, Vaithilingam, Jathana, Gemperle-Britschgi, Corinne, Delnooz, Cathérine C. S., Kluijtmans, Leo A. J., van de Warrenburg, Bart P. C., Wevers, Ron A.

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Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients von Mendes, Marisa I. S., Colaço, Henrique G., Smith, Desirée E. C., Ramos, Rúben J. J. F., Pop, Ana, van Dooren, Silvy J. M., Tavares de Almeida, Isabel, Kluijtmans, Leo A. J., Janssen, Mirian C. H., Rivera, Isabel, Salomons, Gajja S., Leandro, Paula, Blom, Henk J.

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A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts von Smith, Desirée E.C., Mendes, Marisa I.S., Kluijtmans, Leo A.J., Janssen, Mirian C.H., Smulders, Yvo M., Blom, Henk J.

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Polymorphisms in the Transcobalamin Gene: Association with Plasma Homocysteine in Healthy Individuals and Vascular Disease Patients von Lievers, Karin J.A, Afman, Lydia A, Kluijtmans, Leo A.J, Boers, Godfried H.J, Verhoef, Petra, den Heijer, Martin, Trijbels, Frans J.M, Blom, Henk J

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Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency von Kluijtmans, L A, Wendel, U, Stevens, E M, van den Heuvel, L P, Trijbels, F J, Blom, H J

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Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type) von Heil, Sandra G, Hogeveen, Marije, Kluijtmans, Leo A. J, van Dijken, P. J, van de Berg, Gerard B, Blom, Henk J, Morava, Eva

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Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion von 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

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Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia von van der Vleuten, Gerly M., Hijmans, Anneke, Kluijtmans, Leo A.J., Blom, Henk J., Stalenhoef, Anton F.H., de Graaf, Jacqueline

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Cytochrome P450-2C11 mRNA Is Not Expressed in Endothelial Cells Dissected from Rat Renal Arterioles von Heil, Sandra G., De Vriese, An S., Kluijtmans, Leo A.J., Dijkman, Henry, van Strien, Denise, Akkers, Robert, Blom, Henk J.

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The genotypic and phenotypic spectrum of MTO1 deficiency von 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 AJ, 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 DM

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