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Duran, Marinus
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1

Identification of human D lactate dehydrogenase deficiency:

Monroe, Glen R. ; van Eerde, Albertien M. ; Tessadori, Federico...
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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2

Molybdenum cofactor deficiency: Identification of a patient..:

Huijmans, Jan G. M. ; Schot, Rachel ; de Klerk, Johannis B. C....
American Journal of Medical Genetics Part A.  173 (2017)  6 - p. 1601-1606 , 2017
Link: https://doi.org/10.1002/..
 
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3

A novel UPLC-MS/MS based method to determine the activity o..:

Dercksen, Marli ; Duran, Marinus ; IJlst, Lodewijk...
Molecular Genetics and Metabolism.  119 (2016)  4 - p. 307-310 , 2016
Link: https://doi.org/10.1016/..
 
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4

Genetic basis of alpha‐aminoadipic and alpha‐ketoadipic aci..:

Hagen, Jacob ; te Brinke, Heleen ; Wanders, Ronald J. A....
Journal of Inherited Metabolic Disease.  38 (2015)  5 - p. 873-879 , 2015
Link: https://doi.org/10.1007/..
 
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5

Infantile hypophosphatasia without bone deformities present..:

de Roo, Marieke G.A. ; Abeling, Nico G.G.M. ; Majoie, Charles B....
Molecular Genetics and Metabolism.  111 (2014)  3 - p. 404-407 , 2014
Link: https://doi.org/10.1016/..
 
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6

S‐adenosylmethionine and S‐adenosylhomocysteine in plasma a..:

Hagebeuk, Eveline E. O. ; Duran, Marinus ; Abeling, Nico G. G. M...
Journal of Inherited Metabolic Disease.  36 (2013)  6 - p. 967-972 , 2013
Link: https://doi.org/10.1007/..
 
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7

Genetic basis of hyperlysinemia:

Houten, Sander M ; te Brinke, Heleen ; Denis, Simone...
Orphanet Journal of Rare Diseases.  8 (2013)  1 - p. 57 , 2013
Link: https://doi.org/10.1186/..
 
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8

Valproyl‐CoA inhibits the activity of ATP‐ and GTP‐dependen..:

Luís, Paula B. M. ; Ruiter, Jos ; IJlst, Lodewijk...
Journal of Inherited Metabolic Disease.  37 (2013)  3 - p. 353-357 , 2013
Link: https://doi.org/10.1007/..
 
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9

Inborn errors of metabolism with 3‐methylglutaconic aciduri..:

Wortmann, Saskia B. ; Duran, Marinus ; Anikster, Yair...
Journal of Inherited Metabolic Disease.  36 (2013)  6 - p. 923-928 , 2013
Link: https://doi.org/10.1007/..
 
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10

Organic acid profile of isovaleric acidemia: a comprehensiv..:

Dercksen, Marli ; Koekemoer, Gerhard ; Duran, Marinus...
Metabolomics.  9 (2013)  4 - p. 765-777 , 2013
Link: https://doi.org/10.1007/..
 
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11

Red blood cell polyunsaturated fatty acids measured in red ..:

Hoen, Wendela P. ; Lijmer, Jeroen G. ; Duran, Marinus...
Psychiatry Research.  207 (2013)  1-2 - p. 1-12 , 2013
Link: https://doi.org/10.1016/..
 
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12

Substrate specificity of human carnitine acetyltransferase:..:

Violante, Sara ; IJlst, Lodewijk ; Ruiter, Jos...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1832 (2013)  6 - p. 773-779 , 2013
Link: https://doi.org/10.1016/..
 
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13

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria:

Veiga‐da‐Cunha, Maria ; Verhoeven‐Duif, Nanda M. ; de Koning, Tom J....
Journal of Inherited Metabolic Disease.  36 (2012)  6 - p. 961-966 , 2012
Link: https://doi.org/10.1007/..
 
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14

Characterization of D-3-hydroxybutyrylcarnitine (ketocarnit..:

Soeters, Maarten R. ; Serlie, Mireille J. ; Sauerwein, Hans P....
Metabolism.  61 (2012)  7 - p. 966-973 , 2012
Link: https://doi.org/10.1016/..
 
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15

Inhibition of 3‐methylcrotonyl‐CoA carboxylase explains the..:

Luís, Paula B. M. ; Ruiter, Jos P. ; IJlst, Lodewijk...
Journal of Inherited Metabolic Disease.  35 (2011)  3 - p. 443-449 , 2011
Link: https://doi.org/10.1007/..
 
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