Results
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41.
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N-lactoyl-amino acids are ubiquitous metabolites that originate from CNDP2-mediated reverse proteolysis of lactate and amino acids. [electronic resource] by
- Jansen, Robert S
- Addie, Ruben
- Merkx, Remco
- Fish, Alexander
- Mahakena, Sunny
- Bleijerveld, Onno B
- Altelaar, Maarten
- IJlst, Lodewijk
- Wanders, Ronald J
- Borst, P
- van de Wetering, Koen
Producer: 20150828
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 112
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42.
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43.
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Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria. [electronic resource] by
- Loupatty, Ference J
- van der Steen, Annemarie
- Ijlst, Lodewijk
- Ruiter, Jos P N
- Ofman, Rob
- Baumgartner, Matthias R
- Ballhausen, Diana
- Yamaguchi, Seiji
- Duran, Marinus
- Wanders, Ronald J A
Producer: 20060630
In:
Molecular genetics and metabolism vol. 87
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44.
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45.
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Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. [electronic resource] by
- Spiekerkoetter, Ute
- Tokunaga, Chonan
- Wendel, Udo
- Mayatepek, Ertan
- Ijlst, Lodewijk
- Vaz, Frederic M
- van Vlies, Naomi
- Overmars, Henk
- Duran, Marinus
- Wijburg, Frits A
- Wanders, Ronald J
- Strauss, Arnold W
Producer: 20050923
In:
Pediatric research vol. 57
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46.
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A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency. [electronic resource] by
- 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
Producer: 20200309
In:
Human mutation vol. 40
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47.
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Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation. [electronic resource] by
- Luís, Paula B M
- Ruiter, Jos P
- Ofman, Rob
- Ijlst, Lodewijk
- Moedas, Marco
- Diogo, Luísa
- Garcia, Paula
- de Almeida, Isabel Tavares
- Duran, Marinus
- Wanders, Ronald J
- Silva, Margarida F B
Producer: 20120116
In:
Biochemical pharmacology vol. 82
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48.
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Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose. [electronic resource] by
- Carrier, David J
- van Roermund, Carlo W T
- Schaedler, Theresia A
- Rong, Hong Lin
- IJlst, Lodewijk
- Wanders, Ronald J A
- Baldwin, Stephen A
- Waterham, Hans R
- Theodoulou, Frederica L
- Baker, Alison
Producer: 20201102
In:
Scientific reports vol. 9
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49.
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50.
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Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency. [electronic resource] by
- Diekman, Eugène F
- Boelen, Carolien C A
- Prinsen, Berthil H C M T
- Ijlst, Lodewijk
- Duran, Marinus
- de Koning, Tom J
- Waterham, Hans R
- Wanders, Ronald J A
- Wijburg, Frits A
- Visser, Gepke
Producer: 20130225
In:
JIMD reports vol. 7
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51.
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Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution. [electronic resource] by
- Chatzispyrou, Iliana A
- Guerrero-Castillo, Sergio
- Held, Ntsiki M
- Ruiter, Jos P N
- Denis, Simone W
- IJlst, Lodewijk
- Wanders, Ronald J
- van Weeghel, Michel
- Ferdinandusse, Sacha
- Vaz, Frédéric M
- Brandt, Ulrich
- Houtkooper, Riekelt H
Producer: 20181211
In:
Biochimica et biophysica acta. Molecular basis of disease vol. 1864
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52.
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Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. [electronic resource] by
- Bosch, Annet M
- Abeling, Nico G G M
- Ijlst, Lodewijk
- Knoester, Hennie
- van der Pol, W Ludo
- Stroomer, Alida E M
- Wanders, Ronald J
- Visser, Gepke
- Wijburg, Frits A
- Duran, Marinus
- Waterham, Hans R
Producer: 20110512
In:
Journal of inherited metabolic disease vol. 34
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53.
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Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. [electronic resource] by
- 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
Producer: 20070212
In:
American journal of human genetics vol. 80
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54.
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Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. [electronic resource] by
- Diekman, Eugene F
- Ferdinandusse, Sacha
- van der Pol, Ludo
- Waterham, Hans R
- Ruiter, Jos P N
- Ijlst, Lodewijk
- Wanders, Ronald J
- Houten, Sander M
- Wijburg, Frits A
- Blank, A Christiaan
- Asselbergs, Folkert W
- Houtkooper, Riekelt H
- Visser, Gepke
Producer: 20160714
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 17
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55.
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Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans. [electronic resource] by
- de Ru, Minke H
- van der Tol, Linda
- van Vlies, Naomi
- Bigger, Brian W
- Hollak, Carla E M
- Ijlst, Lodewijk
- Kulik, Wim
- van Lenthe, Henk
- Saif, Muhammad A
- Wagemans, Tom
- van der Wal, Willem M
- Wanders, Ronald J
- Wijburg, Frits A
Producer: 20140114
In:
Journal of inherited metabolic disease vol. 36
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56.
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Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact. [electronic resource] by
- Shai, Nadav
- Yifrach, Eden
- van Roermund, Carlo W T
- Cohen, Nir
- Bibi, Chen
- IJlst, Lodewijk
- Cavellini, Laetitia
- Meurisse, Julie
- Schuster, Ramona
- Zada, Lior
- Mari, Muriel C
- Reggiori, Fulvio M
- Hughes, Adam L
- Escobar-Henriques, Mafalda
- Cohen, Mickael M
- Waterham, Hans R
- Wanders, Ronald J A
- Schuldiner, Maya
- Zalckvar, Einat
Producer: 20181211
In:
Nature communications vol. 9
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57.
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Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates. [electronic resource] 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
Producer: 20200423
In:
International journal of molecular sciences vol. 21
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58.
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Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency. [electronic resource] by
- Bleeker, Jeannette C
- Visser, Gepke
- Clarke, Kieran
- Ferdinandusse, Sacha
- de Haan, Ferdinand H
- Houtkooper, Riekelt H
- IJlst, Lodewijk
- Kok, Irene L
- Langeveld, Mirjam
- van der Pol, W Ludo
- de Sain-van der Velden, Monique G M
- Sibeijn-Kuiper, Anita
- Takken, Tim
- Wanders, Ronald J A
- van Weeghel, Michel
- Wijburg, Frits A
- van der Woude, Luc H
- Wüst, Rob C I
- Cox, Pete J
- Jeneson, Jeroen A L
Producer: 20210823
In:
Journal of inherited metabolic disease vol. 43
Availability: No items available.
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