Identification of enzymes involved in oxidation of phenylbutyrate

por Palir, Neža, Ruiter, Jos P. N., Wanders, Ronald J. A., Houtkooper, Riekelt H.
Publicado en J Lipid Res (2017)

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

por Wanders, Ronald J. A., Ruiter, Jos P. N., IJlst, Lodewijk, Waterham, Hans R., Houten, Sander M.
Publicado 2010

3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH

por IJlst, Lodewijk, Loupatty, Ference J., Ruiter, Jos P. N., Duran, Marinus, Lehnert, Willy, Wanders, Ronald J. A.
Publicado 2002

Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase

por Schmidt, Stinne P., Corydon, Thomas J., Pedersen, Christina B., Vang, Søren, Palmfeldt, Johan, Stenbroen, Vibeke, Wanders, Ronald J. A., Ruiter, Jos P. N., Gregersen, Niels
Publicado 2010

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

por Ofman, Rob, Ruiter, Jos P. N., Feenstra, Marike, Duran, Marinus, Poll-The, Bwee Tien, Zschocke, Johannes, Ensenauer, Regina, Lehnert, Willy, Sass, Jörn Oliver, Sperl, Wolfgang, Wanders, Ronald J. A.
Publicado 2003

Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase.

por Silva, Margarida F B, Ruiter, Jos P N, Overmars, Henk, Bootsma, Albert H, van Gennip, Albert H, Jakobs, Cornelis, Duran, Marinus, Tavares de Almeida, Isabel, Wanders, Ronald J A
Publicado 2002

Role of Isovaleryl-CoA Dehydrogenase and Short Branched-Chain Acyl-CoA Dehydrogenase in the Metabolism of Valproic Acid: Implications for the Branched-Chain Amino Acid Oxidation Pa...

por Luís, Paula B. M., Ruiter, Jos P. N., IJlst, Lodewijk, Tavares de Almeida, Isabel, Duran, Marinus, Mohsen, Al-Walid, Vockley, Jerry, Wanders, Ronald J. A., Silva, Margarida F. B.
Publicado 2011

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency

por Ferdinandusse, Sacha, te Brinke, Heleen, Ruiter, Jos P.N., Haasjes, Janet, Oostheim, Wendy, van Lenthe, Henk, IJlst, Lodewijk, Ebberink, Merel S., Wanders, Ronald J.A., Vaz, Frédéric M., Waterham, Hans R.
Publicado en Hum Mutat (2019)

Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and E...

por Andresen, Brage Storstein, Christensen, Ernst, Corydon, Thomas J., Bross, Peter, Pilgaard, Bente, Wanders, Ronald J. A., Ruiter, Jos P. N., Simonsen, Henrik, Winter, Vibeke, Knudsen, Inga, Schroeder, Lisbeth Dahl, Gregersen, Niels, Skovby, Flemming
Publicado 2000

Mitochondrial long chain fatty acid β-oxidation in man and mouse

por Chegary, Malika, Brinke, Heleen te, Ruiter, Jos P.N., Wijburg, Frits A., Stoll, Maria S.K., Minkler, Paul E., van Weeghel, Michel, Schulz, Horst, Hoppel, Charles L., Wanders, Ronald J.A., Houten, Sander M.
Publicado 2009

Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

por Loupatty, Ference J., Clayton, Peter T., Ruiter, Jos P. N., Ofman, Rob, IJlst, Lodewijk, Brown, Garry K., Thorburn, David R., Harris, Robert A., Duran, Marinus, DeSousa, Carlos, Krywawych, Steve, Heales, Simon J. R., Wanders, Ronald J. A.
Publicado 2007

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

por van Dijk, Tessa, Ferdinandusse, Sacha, Ruiter, Jos P. N., Alders, Mariëlle, Mathijssen, Inge B., Parboosingh, Jillian S., Innes, A. Micheil, Meijers-Heijboer, Hanne, Poll-The, Bwee Tien, Bernier, Francois P., Wanders, Ronald J. A., Lamont, Ryan E., Baas, Frank
Publicado en Eur J Hum Genet (2018)

Clinical and biochemical characterization of four patients with mutations in ECHS1

por Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R., Gowan, Katherine, Chatfield, Kathryn, Bloom, Kaitlyn, Bennett, Michael J., Elpeleg, Orly, Van Hove, Johan L. K., Wanders, Ronald J. A.
Publicado en Orphanet J Rare Dis (2015)

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

por Vaz, Frédéric M, McDermott, John H, Alders, Mariëlle, Wortmann, Saskia B, Kölker, Stefan, Pras-Raves, Mia L, Vervaart, Martin A T, van Lenthe, Henk, Luyf, Angela C M, Elfrink, Hyung L, Metcalfe, Kay, Cuvertino, Sara, Clayton, Peter E, Yarwood, Rebecca, Lowe, Martin P, Lovell, Simon, Rogers, Richard C, van Kampen, Antoine H C, Ruiter, Jos P N, Wanders, Ronald J A, Ferdinandusse, Sacha, van Weeghel, Michel, Engelen, Marc, Banka, Siddharth
Publicado en Brain (2019)

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

por Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M., Ruiter, Jos P. N., van Lint, Alida E. M., Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L., Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V., Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A., Macnamara, Ellen F., Wolfe, Lynne, Waisfisz, Quinten, Zwijnenburg, Petra J. G., Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C., van Kampen, Antoine H. C., Wanders, Ronald J. A., Waterham, Hans R., Cassiman, David, Vaz, Frédéric M.
Publicado en Genet Med (2020)