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Mice with a deficiency in Peroxisomal Membrane Protein 4 (PXMP4) display mild changes in hepatic lipid metabolism.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06479-y
By:
- Blankestijn, Maaike;
- Bloks, Vincent W.;
- Struik, Dicky;
- Huijkman, Nicolette;
- Kloosterhuis, Niels;
- Wolters, Justina C.;
- Wanders, Ronald J. A.;
- Vaz, Frédéric M.;
- Islinger, Markus;
- Kuipers, Folkert;
- van de Sluis, Bart;
- Groen, Albert K.;
- Verkade, Henkjan J.;
- Jonker, Johan W.
Publication type:
Article
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.
Published in:
2007
By:
- Aliefendioǧlu, Didem;
- Dursun, Ali;
- Coşkun, Turgay;
- Akçören, Zuhal;
- Wanders, Ronald J. A.;
- Waterham, Hans R.;
- Aliefendioğlu, Didem;
- Coşkun, Turgay;
- Akçören, Zuhal
Publication type:
journal article
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome.
Published in:
2001
By:
- Lopriore, Enrico;
- Gemke, Reinoud J. B. J.;
- Verhoeven, Nanda M.;
- Jakobs, Cornelis;
- Wanders, Ronald J. A.;
- Roeleveld-Versteeg, Angelique B. C.;
- Poll-The, Bwee Tien;
- Lopriore, E;
- Gemke, R J;
- Verhoeven, N M;
- Jakobs, C;
- Wanders, R J;
- Roeleveld-Versteeg, A B;
- Poll-The, B T
Publication type:
journal article
NAD<sup>+</sup> homeostasis in human health and disease.
Published in:
EMBO Molecular Medicine, 2021, v. 13, n. 7, p. 1, doi. 10.15252/emmm.202113943
By:
- Zapata‐Pérez, Rubén;
- Wanders, Ronald J A;
- Karnebeek, Clara D M;
- Houtkooper, Riekelt H
Publication type:
Article
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.
Published in:
EMBO Molecular Medicine, 2010, v. 2, n. 3, p. 90, doi. 10.1002/emmm.201000061
By:
- Ofman, Rob;
- Dijkstra, Inge M. E.;
- van Roermund, Carlo W. T.;
- Burger, Nena;
- Turkenburg, Marjolein;
- van Cruchten, Arno;
- van Engen, Catherine E.;
- Wanders, Ronald J. A.;
- Kemp, Stephan
Publication type:
Article
A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Published in:
EMBO Molecular Medicine, 2010, v. 2, n. 2, p. 51, doi. 10.1002/emmm.200900055
By:
- Rauschenberger, Katharina;
- Schöler, Katja;
- Sass, Jörn Oliver;
- Sauer, Sven;
- Djuric, Zdenka;
- Rumig, Cordula;
- Wolf, Nicole I.;
- Okun, Jürgen G.;
- Kölker, Stefan;
- Schwarz, Heinz;
- Fischer, Christine;
- Grziwa, Beate;
- Runz, Heiko;
- Nümann, Astrid;
- Shafqat, Naeem;
- Kavanagh, Kathryn L.;
- Hämmerling, Günter;
- Wanders, Ronald J. A.;
- Shield, Julian P. H.;
- Wendel, Udo
Publication type:
Article
Zellweger spectrum disorders: clinical overview and management approach.
Published in:
2015
By:
- Klouwer, Femke C. C.;
- Berendse, Kevin;
- Ferdinandusse, Sacha;
- Wanders, Ronald J. A.;
- Engelen, Marc;
- Poll-The, Bwee Tien
Publication type:
journal article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W.;
- Burlina, Alberto;
- Ruiter, Jos P. N.;
- Coughlin II, 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.
Publication type:
Article
Clinical and biochemical characterization of four patients with mutations in ECHS1
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W.;
- Burlina, Alberto;
- Ruiter, Jos P. N.;
- Coughlin II, 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.
Publication type:
Article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Published in:
2015
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W;
- Burlina, Alberto;
- Ruiter, Jos P N;
- Coughlin 2nd, 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;
- Coughlin, Curtis R 2nd
Publication type:
journal article
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-138
By:
- Berendse, Kevin;
- Ebberink, Merel S.;
- IJlst, Lodewijk;
- Poll-The, Bwee Tien;
- A. Wanders, Ronald J.;
- Waterham, Hans R.
Publication type:
Article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-98
By:
- Marcadier, Julien L.;
- Smith, Amanda M.;
- Pohl, Daniela;
- Schwartzentruber, Jeremy;
- Al-Dirbashi, Osama Y.;
- Majewski, Jacek;
- Ferdinandusse, Sacha;
- Wanders, Ronald J. A.;
- Bulman, Dennis E.;
- Boycott, Kym M.;
- Chakraborty, Pranesh;
- Geraghty, Michael T.
Publication type:
Article
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-99
By:
- Kingma, Sandra D. K.;
- Langereis, Eveline J.;
- De Klerk, Clasine M.;
- Zoetekouw, Lida;
- Wagemans, Tom;
- IJlst, Lodewijk;
- Wanders, Ronald J. A.;
- Wijburg, Frits A.;
- van Vlies, Naomi
Publication type:
Article
Genetic basis of hyperlysinemia.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-57
By:
- Houten, Sander M.;
- Brinke, Heleen te;
- Denis, Simone;
- Ruiter, Jos P. N.;
- Knegt, Alida C.;
- de Klerk, Johannis B. C.;
- Augoustides-Savvopoulou, Persephone;
- Häberle, Johannes;
- Baumgartner, Matthias R.;
- Coskun, Turgay;
- Zschocke, Johannes;
- Sass, Jörn Oliver;
- Poll-The, Bwee Tien;
- Wanders, Ronald J. A.;
- Duran, Marinus
Publication type:
Article
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Published in:
2013
By:
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- Heales, Simon J. R.;
- Brown, Garry K.;
- Hargreaves, Iain P.;
- Taanman, Jan-Willem;
- Gunny, Roxana;
- Abulhoul, Lara;
- Wanders, Ronald J. A.;
- Clayton, Peter T.;
- Leonard, James V.;
- Rahman, Shamima
Publication type:
journal article
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
Published in:
2013
By:
- Kingma, Sandra Dk;
- Langereis, Eveline J;
- de Klerk, Clasine M;
- Zoetekouw, Lida;
- Wagemans, Tom;
- IJlst, Lodewijk;
- Wanders, Ronald Ja;
- Wijburg, Frits A;
- van Vlies, Naomi;
- Kingma, Sandra D K;
- Ĳlst, Lodewijk;
- Wanders, Ronald J A
Publication type:
journal article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Published in:
2013
By:
- Marcadier, Julien L;
- Smith, Amanda M;
- Pohl, Daniela;
- Schwartzentruber, Jeremy;
- Al-Dirbashi, Osama Y;
- Majewski, Jacek;
- Ferdinandusse, Sacha;
- Wanders, Ronald Ja;
- Bulman, Dennis E;
- Boycott, Kym M;
- Chakraborty, Pranesh;
- Geraghty, Michael T;
- FORGE Canada Consortium;
- Wanders, Ronald J A
Publication type:
journal article
Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.
Published in:
2013
By:
- Berendse, Kevin;
- Ebberink, Merel S;
- Ijlst, Lodewijk;
- Poll-The, Bwee Tien;
- Wanders, Ronald J A;
- Waterham, Hans R
Publication type:
journal article
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Published in:
2012
By:
- Engelen, Marc;
- Kemp, Stephan;
- de Visser, Marianne;
- van Geel, Björn M;
- Wanders, Ronald Ja;
- Aubourg, Patrick;
- Poll-The, Bwee Tien;
- Wanders, Ronald J A
Publication type:
journal article
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
Published in:
2012
By:
- McMillan, Hugh J;
- Worthylake, Thea;
- Schwartzentruber, Jeremy;
- Gottlieb, Chloe C;
- Lawrence, Sarah E;
- Mackenzie, Alex;
- Beaulieu, Chandree L;
- Mooyer, Petra A W;
- Wanders, Ronald J A;
- Majewski, Jacek;
- Bulman, Dennis E;
- Geraghty, Michael T;
- Ferdinandusse, Sacha;
- Boycott, Kym M;
- FORGE Canada Consortium
Publication type:
journal article
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
Published in:
2012
By:
- Bosch, Annet M;
- Stroek, Kevin;
- Abeling, Nico G;
- Waterham, Hans R;
- Ijlst, Lodewijk;
- Wanders, Ronald J A
Publication type:
journal article
Specific combination of compound heterozygous mutations in 17βhydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 90, doi. 10.1186/1750-1172-7-90
By:
- McMillan, Hugh J.;
- Worthylake, Thea;
- Schwartzentruber, Jeremy;
- Gottlieb, Chloe C.;
- Lawrence, Sarah E.;
- MacKenzie, Alex;
- Beaulieu, Chandree L.;
- W. Mooyer, Petra A.;
- A. Wanders, Ronald J.;
- Majewski, Jacek;
- Bulman, Dennis E.;
- Geraghty, Michael T.;
- Ferdinandusse, Sacha;
- Boycott, Kym M.
Publication type:
Article
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 83, doi. 10.1186/1750-1172-7-83
By:
- Bosch, Annet M.;
- Stroek, Kevin;
- Abeling, Nico G.;
- Waterham, Hans R.;
- IJlst, Lodewijk;
- A. Wanders, Ronald J.
Publication type:
Article
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 30, doi. 10.1186/1750-1172-7-30
By:
- L. Touw, Catharina M.;
- A. Smit, G. Peter;
- de Vries, Maaike;
- C. de Klerk, Johannis B.;
- Bosch, Annet M.;
- Visser, Gepke;
- Mulder, Margot F.;
- Rubio-Gozalbo, M. Estela;
- Elvers, Bert;
- Niezen-Koning, Klary E.;
- A. Wanders, Ronald J.;
- Waterham, Hans R.;
- Reijngoud, Dirk-Jan;
- J. Derks, Terry G.
Publication type:
Article
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
Published in:
2011
By:
- Sevin, Caroline;
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- Wanders, Ronald J.;
- Aubourg, Patrick
Publication type:
Case Study
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Published in:
2010
By:
- Dessein, Anne-Frédérique;
- Fontaine, Monique;
- Andresen, Brage S.;
- Gregersen, Niels;
- Brivet, Michèle;
- Rabier, Daniel;
- Napuri-Gouel, Silvia;
- Dobbelaere, Dries;
- Mention-Mulliez, Karine;
- Martin-Ponthieu, Annie;
- Briand, Gilbert;
- Millington, David S.;
- Vianey-Saban, Christine;
- Wanders, Ronald J. A.;
- Vamecq, Joseph
Publication type:
Case Study
Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.
Published in:
Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. e326, doi. 10.1093/brain/awu233
By:
- Engelen, Marc;
- Barbier, Mathieu;
- Dijkstra, Inge M. E.;
- Schür, Remmelt;
- de Bie, Rob M.;
- Verhamme, Camiel;
- Dijkgraaf, Marcel G. W.;
- Aubourg, Patrick A.;
- Wanders, Ronald J. A.;
- van Geel, Bjorn M.;
- de Visser, Marianne;
- Poll–The, Bwee T.;
- Kemp, Stephan
Publication type:
Article
A happier sequel to Lorenzo's Oil?
Published in:
Nature Medicine, 1998, v. 4, n. 11, p. 1245, doi. 10.1038/3225
By:
- Wanders, Ronald J. A.
Publication type:
Article
Molecular characterization of carnitine-dependent transport of acetyl-CoA from peroxisomes to mitochondria in Saccharomyces cerevisiae and identification of a plasma membrane carnitine transporter, Agp2p.
Published in:
EMBO Journal, 1999, v. 18, n. 21, p. 5843, doi. 10.1093/emboj/18.21.5843
By:
- van Roermund, Carlo W. T.;
- Hettema, Ewald H.;
- van den Berg, Marlene;
- Tabak, Henk F.;
- Wanders, Ronald J. A.
Publication type:
Article
Peroxisomal ß-oxidation of polyunsaturated fatty acids in Saccharomyces cerevisiae: isocitrate dehydrogenase provides NADPH for reduction of double bonds at even positions.
Published in:
EMBO Journal, 1998, v. 17, n. 3, p. 677, doi. 10.1093/emboj/17.3.677
By:
- van Roermund, Carlo W. T.;
- Hettema, Ewald H.;
- Kal, Arnoud J.;
- van den Berg, Marlene;
- Tabak, Henk F.;
- Wanders, Ronald J. A.
Publication type:
Article
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2589, doi. 10.3390/ijms21072589
By:
- Knottnerus, Suzan J. G.;
- Mengarelli, Isabella;
- Wüst, Rob C. I.;
- Baartscheer, Antonius;
- Bleeker, Jeannette C.;
- Coronel, Ruben;
- Ferdinandusse, Sacha;
- Guan, Kaomei;
- IJlst, Lodewijk;
- Li, Wener;
- Luo, Xiaojing;
- Portero, Vincent M.;
- Ulbricht, Ying;
- Visser, Gepke;
- Wanders, Ronald J. A.;
- Wijburg, Frits A.;
- Verkerk, Arie O.;
- Houtkooper, Riekelt H.;
- Bezzina, Connie R.
Publication type:
Article
Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination.
Published in:
2014
By:
- da Silva, Tiago Ferreira;
- Eira, Jessica;
- Lopes, André T;
- Malheiro, Ana R;
- Sousa, Vera;
- Luoma, Adrienne;
- Avila, Robin L;
- Wanders, Ronald J A;
- Just, Wilhelm W;
- Kirschner, Daniel A;
- Sousa, Mónica M;
- Brites, Pedro
Publication type:
journal article
Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 6, p. 2560, doi. 10.1172/JCI72063
By:
- da Silva, Tiago Ferreira;
- Eira, Jessica;
- Lopes, André T.;
- Malheiro, Ana R.;
- Sousa, Vera;
- Luoma, Adrienne;
- Avila, Robin L.;
- Wanders, Ronald J. A.;
- Just, Wilhelm W.;
- Kirschner, Daniel A.;
- Sousa, Mónica M.;
- Brites, Pedro
Publication type:
Article
An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells.
Published in:
Metabolites (2218-1989), 2019, v. 9, n. 3, p. 45, doi. 10.3390/metabo9030045
By:
- Herzog, Katharina;
- IJlst, Lodewijk;
- van Cruchten, Arno G.;
- van Roermund, Carlo W.T.;
- Kulik, Wim;
- Wanders, Ronald J. A.;
- Waterham, Hans R.
Publication type:
Article
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 °C.
Published in:
Journal of Human Genetics, 2007, v. 52, n. 7, p. 599, doi. 10.1007/s10038-007-0157-y
By:
- Zeharia, Avraham;
- Ebberink, Merel S.;
- Wanders, Ronald J. A.;
- Waterham, Hans R.;
- Gutman, Alisa;
- Nissenkorn, Andreea;
- Korman, Stanley H.
Publication type:
Article
PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease.
Published in:
Nucleic Acids Research, 2007, v. 35, p. d815, doi. 10.1093/nar/gkl935
By:
- Schlüter, Agatha;
- Fourcade, Stéphane;
- Domènech-Estévez, Enric;
- Gabaldón, Toni;
- Huerta-Cepas, Jaime;
- Berthommier, Guillaume;
- Ripp, Raymond;
- Wanders, Ronald J. A.;
- Poch, Olivier;
- Pujol, Aurora
Publication type:
Article
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1115, doi. 10.1002/ajmg.a.38658
By:
- Fitzsimons, Patricia E.;
- Alston, Charlotte L.;
- Bonnen, Penelope E.;
- Hughes, Joanne;
- Crushell, Ellen;
- Geraghty, Michael T.;
- Tetreault, Martine;
- O'Reilly, Peter;
- Twomey, Eilish;
- Sheikh, Yusra;
- Walsh, Richard;
- Waterham, Hans R.;
- Ferdinandusse, Sacha;
- Wanders, Ronald J. A.;
- Taylor, Robert W.;
- Pitt, James J.;
- Mayne, Philip D.
Publication type:
Article
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a <italic>NADK2</italic> start loss variant.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 692, doi. 10.1002/ajmg.a.38602
By:
- Pomerantz, Daniel J.;
- Ferdinandusse, Sacha;
- Cogan, Joy;
- Cooper, David N.;
- Reimschisel, Tyler;
- Robertson, Amy;
- Bican, Anna;
- McGregor, Tracy;
- Gauthier, Jackie;
- Millington, David S.;
- Andrae, Jaime L. W.;
- Tschannen, Michael R.;
- Helbling, Daniel C.;
- Demos, Wendy M.;
- Denis, Simone;
- Wanders, Ronald J. A.;
- Newman, John N.;
- Hamid, Rizwan;
- Phillips, III, John A.;
- Collaborators of UDN
Publication type:
Article
Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1642, doi. 10.1002/ajmg.a.37628
By:
- Witters, Peter;
- Régal, Luc;
- Waterham, Hans R.;
- De Meirleir, Linda;
- Wanders, Ronald J. A.;
- Morava, Eva
Publication type:
Article
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 211, doi. 10.1002/ajmg.a.36803
By:
- Scalais, Emmanuel;
- Bottu, Jean;
- Wanders, Ronald J. A.;
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- De Meirleir, Linda
Publication type:
Article
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies.
Published in:
Nature Medicine, 2014, v. 20, n. 6, p. 616, doi. 10.1038/nm.3545
By:
- Wang, Gang;
- McCain, Megan L;
- Yang, Luhan;
- He, Aibin;
- Pasqualini, Francesco Silvio;
- Agarwal, Ashutosh;
- Yuan, Hongyan;
- Jiang, Dawei;
- Zhang, Donghui;
- Zangi, Lior;
- Geva, Judith;
- Roberts, Amy E;
- Ma, Qing;
- Ding, Jian;
- Chen, Jinghai;
- Wang, Da-Zhi;
- Li, Kai;
- Wang, Jiwu;
- Wanders, Ronald J A;
- Kulik, Wim
Publication type:
Article
Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies.
Published in:
Prenatal Diagnosis, 1999, v. 19, n. 6, p. 552, doi. 10.1002/(SICI)1097-0223(199906)19:6<552::AID-PD588>3.0.CO;2-C
By:
- Houštěk, Josef;
- Klement, Petr;
- Heřmanská, Jana;
- Antonická, Hana;
- Houšťková, Hana;
- Stratilová, Leona;
- Wanders, Ronald J. A.;
- Zeman, Jiří
Publication type:
Article
Measurement of 3-hydroxy-3-methylglutaryl-CoA lyase activity in amniotic cells and in chorionic villi.
Published in:
1988
By:
- Barash, Varda;
- Elpeleg, Orly;
- Sheffer, Ruth;
- Mandel, Hanna;
- Wanders, Ronald J. A.;
- Barash, V;
- Elpeleg, O;
- Sheffer, R;
- Mandel, H;
- Wanders, R J
Publication type:
Letter
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.
Published in:
Reviews in Endocrine & Metabolic Disorders, 2018, v. 19, n. 1, p. 93, doi. 10.1007/s11154-018-9448-1
By:
- Knottnerus, Suzan J. G.;
- Bleeker, Jeannette C.;
- Wüst, Rob C. I.;
- Ferdinandusse, Sacha;
- IJlst, Lodewijk;
- Wijburg, Frits A.;
- Wanders, Ronald J. A.;
- Visser, Gepke;
- Houtkooper, Riekelt H.
Publication type:
Article
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
Published in:
Frontiers in Pharmacology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphar.2020.616834
By:
- Verkerk, Arie O.;
- Knottnerus, Suzan J. G.;
- Portero, Vincent;
- Bleeker, Jeannette C.;
- Ferdinandusse, Sacha;
- Guan, Kaomei;
- IJlst, Lodewijk;
- Visser, Gepke;
- Wanders, Ronald J. A.;
- Wijburg, Frits A.;
- Bezzina, Connie R.;
- Mengarelli, Isabella;
- Houtkooper, Riekelt H.
Publication type:
Article
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome.
Published in:
Molecular Microbiology, 2004, v. 51, n. 1, p. 149, doi. 10.1046/j.1365-2958.2003.03802.x
By:
- Gu, Zhiming;
- Valianpour, Fredoen;
- Chen, Shuliang;
- Vaz, Frederic M.;
- Hakkaart, Gertjan A.;
- Wanders, Ronald J. A.;
- Greenberg, Miriam L.
Publication type:
Article
The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase.
Published in:
PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093852
By:
- Jank, Johanna M.;
- Maier, Esther M.;
- Reiβ, Dunja D.;
- Haslbeck, Martin;
- Kemter, Kristina F.;
- Truger, Marietta S.;
- Sommerhoff, Christian P.;
- Ferdinandusse, Sacha;
- Wanders, Ronald J.;
- Gersting, Søren W.;
- Muntau, Ania C.
Publication type:
Article
Hydrogen Sulfide Donor NaHS Reduces Organ Injury in a Rat Model of Pneumococcal Pneumosepsis, Associated with Improved Bio-Energetic Status
Published in:
PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063497
By:
- Aslami, Hamid;
- Pulskens, Wilco P.;
- Kuipers, Maria T.;
- Bos, Aafkeline P.;
- van Kuilenburg, André B. P.;
- Wanders, Ronald J. A.;
- Roelofsen, Jeroen;
- Roelofs, Joris J. T. H.;
- Kerindongo, Raphaela P.;
- Beurskens, Charlotte J. P.;
- Schultz, Marcus J.;
- Kulik, Wim;
- Weber, Nina C.;
- Juffermans, Nicole P.
Publication type:
Article
The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057395
By:
- Gronemeyer, Thomas;
- Wiese, Sebastian;
- Ofman, Rob;
- Bunse, Christian;
- Pawlas, Magdalena;
- Hayen, Heiko;
- Eisenacher, Martin;
- Stephan, Christian;
- Meyer, Helmut E.;
- Waterham, Hans R.;
- Erdmann, Ralf;
- Wanders, Ronald J.;
- Warscheid, Bettina
Publication type:
Article
Bezafibrate for X-Linked Adrenoleukodystrophy.
Published in:
PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041013
By:
- Engelen, Marc;
- Tran, Luc;
- Ofman, Rob;
- Brennecke, Josephine;
- Moser, Ann B.;
- Dijkstra, Inge M. E.;
- Wanders, Ronald J. A.;
- Poll-The, Bwee Tien;
- Kemp, Stephan
Publication type:
Article

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