检索结果 - Ruiter, Jos

Identification of enzymes involved in oxidation of phenylbutyrate 由 Palir, Neža, Ruiter, Jos P. N., Wanders, Ronald J. A., Houtkooper, Riekelt H.

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The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results 由 Wanders, Ronald J. A., Ruiter, Jos P. N., IJlst, Lodewijk, Waterham, Hans R., Houten, Sander M.

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3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH 由 IJlst, Lodewijk, Loupatty, Ference J., Ruiter, Jos P. N., Duran, Marinus, Lehnert, Willy, Wanders, Ronald J. A.

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

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

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

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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... 由 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.

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

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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... 由 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

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

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Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy 由 Van Hove, Johan L.K., Saenz, Margarita S., Thomas, Janet A., Gallagher, Renata, Lovell, Mark A., Fenton, Laura Z., Shanske, Sarah, Myers, Sommer M., Wanders, Ronald J. A., Ruiter, Jos, Turkenburg, Marjolein, Waterham, Hans R.

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

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

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Genetic basis of hyperlysinemia 由 Houten, Sander M, te Brinke, Heleen, Denis, Simone, Ruiter, Jos PN, Knegt, Alida C, de Klerk, Johannis BC, Augoustides-Savvopoulou, Persephone, Häberle, Johannes, Baumgartner, Matthias R, Coşkun, Turgay, Zschocke, Johannes, Sass, Jörn Oliver, Poll-The, Bwee Tien, Wanders, Ronald JA, Duran, Marinus

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Clinical and biochemical characterization of four patients with mutations in ECHS1 由 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.

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

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Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy 由 van Karnebeek, Clara D.M., Ramos, Rúben J., Wen, Xiao-Yan, Tarailo-Graovac, Maja, Gleeson, Joseph G., Skrypnyk, Cristina, Brand-Arzamendi, Koroboshka, Karbassi, Farhad, Issa, Mahmoud Y., van der Lee, Robin, Drögemöller, Britt I., Koster, Janet, Rousseau, Justine, Campeau, Philippe M., Wang, Youdong, Cao, Feng, Li, Meng, Ruiter, Jos, Ciapaite, Jolita, Kluijtmans, Leo A.J., Willemsen, Michel A.A.P., Jans, Judith J., Ross, Colin J., Wintjes, Liesbeth T., Rodenburg, Richard J., Huigen, Marleen C.D.G., Jia, Zhengping, Waterham, Hans R., Wasserman, Wyeth W., Wanders, Ronald J.A., Verhoeven-Duif, Nanda M., Zaki, Maha S., Wevers, Ron A.

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

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Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids 由 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.

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